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Mackenzie's Mission_Reproductive Carrier Screening

Gene: EDA

Green List (high evidence)

EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 10 panels

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Mode of inheritance should be X-linked.
Created: 20 Nov 2020, 6:33 a.m. | Last Modified: 20 Nov 2020, 6:33 a.m.
Panel Version: 0.48

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

7 May 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EDA was added gene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)