ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Prelingual non-syndromic hearing loss and deafness
Gene/Gene Panel: CABP2
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.3
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.2
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
This release fixes a data system issue.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/08/12
Released
1.0.2
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
This release fixes a data system issue.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/07/26
Released (Under revision)
1.0.1
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/03/13
Released
1.0.1
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/03/13
Released (Under revision)
1.0.0
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/03/13
Released
1.0.0
P
Communication deficit (GroupA)
Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) (GroupA) 10NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CIB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
Strong Actionability
Strong Actionability
CABP2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93
Strong Actionability
Strong Actionability
CDH23 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
Strong Actionability
Strong Actionability
CLDN14 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29
Strong Actionability
Strong Actionability
ESPN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36
Strong Actionability
Strong Actionability
ESRRB ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Strong Actionability
Strong Actionability
GIPC3 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
Strong Actionability
Strong Actionability
GJB2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Strong Actionability
Strong Actionability
GRXCR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
Strong Actionability
Strong Actionability
ILDR1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
Strong Actionability
Strong Actionability
LHFPL5 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
Strong Actionability
Strong Actionability
LRTOMT ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
Strong Actionability
Strong Actionability
MARVELD2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
Strong Actionability
Strong Actionability
MYO15A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
Strong Actionability
Strong Actionability
MYO3A ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
Strong Actionability
Strong Actionability
MYO6 ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
Strong Actionability
Strong Actionability
OTOA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
Strong Actionability
Strong Actionability
OTOG ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
Strong Actionability
Strong Actionability
OTOGL ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
Strong Actionability
Strong Actionability
PDZD7 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57
Strong Actionability
Strong Actionability
POU3F4 ⇔ 0016297 DEAFNESS, X-LINKED 2; DFNX2
Strong Actionability
Strong Actionability
PTPRQ ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Strong Actionability
Strong Actionability
RDX ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
Strong Actionability
Strong Actionability
S1PR2 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
Strong Actionability
Strong Actionability
STRC ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
Strong Actionability
Strong Actionability
TECTA ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
Strong Actionability
Strong Actionability
TMC1 ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
Strong Actionability
Strong Actionability
TMIE ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
Strong Actionability
Strong Actionability
TPRN ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
Strong Actionability
Strong Actionability
TRIOBP ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
Strong Actionability
Strong Actionability
PJVK ⇔ 0016297 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
Strong Actionability
Strong Actionability
2021/01/22
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
¤ Powered by BCM's Genboree.