Gene Symbol:
GJA1
HGNC:4274
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q22.31
Filters:

Ambry Genetics classifications

oculodentodigital dysplasia
Submitted as: OMIM:164200
SD
04/02/2020
Evaluated
03/02/2021
Submitted
syndactyly type 3
Submitted as: OMIM:186100
AD
04/02/2020
Evaluated
03/02/2021
Submitted
autosomal dominant palmoplantar keratoderma and congenital alopecia
Submitted as: OMIM:104100
AD
04/02/2020
Evaluated
03/02/2021
Submitted
craniometaphyseal dysplasia, autosomal recessive
Submitted as: OMIM:218400
AR
04/02/2020
Evaluated
03/02/2021
Submitted
erythrokeratodermia variabilis et progressiva 3
Submitted as: OMIM:617525
AD
04/02/2020
Evaluated
03/02/2021
Submitted

ClinGen classifications

nonsyndromic genetic hearing loss
AD
03/16/2022
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

autosomal dominant palmoplantar keratoderma and congenital alopecia
Submitted as: OMIM:104100
AD
10/15/2020
Evaluated
03/31/2021
Submitted
erythrokeratodermia variabilis et progressiva 3
Submitted as: OMIM:617525
AD
10/15/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

craniometaphyseal dysplasia, autosomal recessive
Submitted as: OMIM:218400
Unknown
09/16/2019
Evaluated
11/30/2023
Submitted
erythrokeratodermia variabilis et progressiva 3
Submitted as: OMIM:617525
AD
06/02/2020
Evaluated
11/30/2023
Submitted
oculodentodigital dysplasia, autosomal recessive
Submitted as: OMIM:257850
AR
12/20/2022
Evaluated
11/30/2023
Submitted
oculodentodigital dysplasia
Submitted as: OMIM:164200
AD
12/20/2022
Evaluated
11/30/2023
Submitted
syndactyly type 3
Submitted as: OMIM:186100
Unknown
03/27/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal dominant palmoplantar keratoderma and congenital alopecia
Submitted as: Orphanet:1010
AD
09/14/2021
Evaluated
09/14/2021
Submitted
craniometaphyseal dysplasia
Submitted as: Orphanet:1522
AD
09/14/2021
Evaluated
09/14/2021
Submitted
oculodentodigital dysplasia
Submitted as: Orphanet:2710
AD
09/14/2021
Evaluated
09/14/2021
Submitted
erythrokeratodermia variabilis
Submitted as: Orphanet:317
AD
09/14/2021
Evaluated
09/14/2021
Submitted
syndactyly type 3
Submitted as: Orphanet:93404
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Hallermann-Streiff syndrome
Submitted as: OMIM:234100
AR
07/22/2015
Evaluated
09/11/2023
Submitted
hypoplastic left heart syndrome 1
Submitted as: OMIM:241550
AD
07/22/2015
Evaluated
09/11/2023
Submitted
syndactyly type 3
Submitted as: OMIM:186100
AD
07/22/2015
Evaluated
09/11/2023
Submitted
oculodentodigital dysplasia, autosomal recessive
Submitted as: OMIM:257850
AR
07/22/2015
Evaluated
09/11/2023
Submitted
oculodentodigital dysplasia
Submitted as: OMIM:164200
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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