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Rare genetic inflammatory skin disorders

Gene: EDA

Red List (low evidence)
EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

High evidence supporting gene to listed phenotype, but is ectodermal dysplasia appropriate for ISD? Other phenotype?
Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21

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

Phenotypes
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: EDA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:02 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Jan 2019, 2:02 p.m.

Panel version: 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Red was added to EDA. Added phenotypes ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED for gene: EDA Publications for gene EDA were changed from to 9683615 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to EDA.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: EDA was added gene: EDA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED