Gene Symbol:
GJB3
HGNC:4285
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p34.3
Filters:

Autosomal dominant nonsyndromic hearing loss classifications

autosomal dominant nonsyndromic hearing loss
Submitted as: Orphanet:90635
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal dominant nonsyndromic hearing loss 2B classifications

autosomal dominant nonsyndromic hearing loss 2B
Submitted as: OMIM:612644
AD
10/09/2020
Evaluated
11/09/2020
Submitted
autosomal dominant nonsyndromic hearing loss 2B
Submitted as: OMIM:612644
AD
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal dominant nonsyndromic hearing loss 2B
Submitted as: OMIM:612644
Unknown
04/09/2020
Evaluated
11/30/2023
Submitted

Erythrokeratodermia variabilis classifications

erythrokeratodermia variabilis
Submitted as: Orphanet:317
AD
09/14/2021
Evaluated
09/14/2021
Submitted
erythrokeratodermia variabilis
AD
03/05/2018
Evaluated
10/18/2023
Submitted

Erythrokeratodermia variabilis et progressiva 1 classifications

erythrokeratodermia variabilis et progressiva 1
Submitted as: OMIM:133200
AD
10/15/2020
Evaluated
03/31/2021
Submitted
erythrokeratodermia variabilis et progressiva 1
Submitted as: OMIM:133200
AR
10/15/2020
Evaluated
03/31/2021
Submitted
erythrokeratodermia variabilis et progressiva 1
Submitted as: OMIM:133200
AD
07/22/2015
Evaluated
09/11/2023
Submitted
erythrokeratodermia variabilis et progressiva 1
Submitted as: OMIM:133200
AD
05/28/2018
Evaluated
11/30/2023
Submitted
erythrokeratodermia variabilis et progressiva 1
Submitted as: OMIM:133200
AR
05/28/2018
Evaluated
11/30/2023
Submitted

Hearing loss, autosomal recessive classifications

hearing loss, autosomal recessive
Submitted as: Orphanet:90636
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Neuropathy with hearing impairment classifications

neuropathy with hearing impairment
Submitted as: Orphanet:139512
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Nonsyndromic genetic hearing loss classifications

nonsyndromic genetic hearing loss
AD
02/27/2018
Evaluated
10/18/2023
Submitted

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