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Ectodermal dysplasia without a known gene mutation

Gene: EDA

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

2 reviews

John McGrath (King's College London)

Green List (high evidence)

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

Phenotypes
Hypohidrotic ectodermal dysplasia

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM and G2P.
Created: 22 Jul 2016, 1:46 p.m.
Comment on list classification: Green expert review and Is a confirmed DD gene for ectodermal dysplasia type 1.
Created: 22 Jul 2016, 1:45 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.
Created: 22 Jul 2016, 1:46 p.m.

Panel version: 0.61

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
  • Tooth agenesis, selective, X-linked 1, 313500
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EDA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Emory Genetics Laboratory

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing