Gene Symbol:
EDAR
HGNC:2895
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q13
Filters:

Definitive classifications

ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Submitted as: OMIM:129490
AD
11/26/2019
Evaluated
01/17/2025
Submitted
ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Submitted as: OMIM:224900
AR
04/11/2024
Evaluated
01/17/2025
Submitted

Strong classifications

ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Submitted as: OMIM:224900
AR
10/04/2021
Evaluated
11/30/2023
Submitted
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Submitted as: OMIM:129490
AD
01/17/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Submitted as: OMIM:129490
AD
04/12/2024
Evaluated
01/17/2025
Submitted

Supportive classifications

autosomal recessive hypohidrotic ectodermal dysplasia
Submitted as: Orphanet:248
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant hypohidrotic ectodermal dysplasia
Submitted as: Orphanet:1810
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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