Gene Symbol:
GJB2
HGNC:4284
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
13q12.11
Filters:

Definitive classifications

hearing loss, autosomal recessive
AR
03/02/2017
Evaluated
01/16/2023
Submitted
autosomal recessive nonsyndromic hearing loss 1A
Submitted as: OMIM:220290
AR
05/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Strong classifications

autosomal recessive nonsyndromic hearing loss 1A
Submitted as: OMIM:220290
AR
10/09/2020
Evaluated
11/09/2020
Submitted
ichthyosis, hystrix-like, with hearing loss
Submitted as: OMIM:602540
AD
01/29/2021
Evaluated
03/31/2021
Submitted
palmoplantar keratoderma-deafness syndrome
Submitted as: OMIM:148350
AD
01/29/2021
Evaluated
03/31/2021
Submitted
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Submitted as: OMIM:148210
AD
01/29/2021
Evaluated
03/31/2021
Submitted
keratoderma hereditarium mutilans
Submitted as: OMIM:124500
AD
01/29/2021
Evaluated
03/31/2021
Submitted
Bart-Pumphrey syndrome
Submitted as: OMIM:149200
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

KID syndrome
Submitted as: Orphanet:477
AD
09/14/2021
Evaluated
09/14/2021
Submitted
palmoplantar keratoderma-deafness syndrome
Submitted as: Orphanet:2202
AD
09/14/2021
Evaluated
09/14/2021
Submitted
keratoderma hereditarium mutilans
Submitted as: Orphanet:494
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant nonsyndromic hearing loss
Submitted as: Orphanet:90635
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hearing loss, autosomal recessive
Submitted as: Orphanet:90636
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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