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Prepair 1000+

Gene: EDAR

Green List (high evidence)

EDAR (ectodysplasin A receptor)
EnsemblGeneIds (GRCh38): ENSG00000135960
EnsemblGeneIds (GRCh37): ENSG00000135960
OMIM: 604095, Gene2Phenotype
EDAR is in 9 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.
Created: 8 Jan 2025, 9:11 a.m. | Last Modified: 8 Jan 2025, 9:12 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
OMIM
604095
Clinvar variants
Variants in EDAR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: edar has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EDAR were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EDAR was added gene: EDAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)