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  3. EDA
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Fetal anomalies

Gene: EDA

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update in line with the recent Red review by Rhiannon Mellis (GOSH).
Created: 19 Aug 2022, 3:26 p.m. | Last Modified: 19 Aug 2022, 3:26 p.m.
Panel Version: 1.932
Created: 19 Aug 2022, 3:26 p.m.
Last Modified: 19 Aug 2022, 3:26 p.m.
Panel version: 2.10

Rhiannon Mellis (Great Ormond Street Hospital)

Red List (low evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Phenotype unlikely to be fetally relevant, suggest demote to Red

Details of review:
Consistency check as noted that EDA is Green but EDAR is Red (both cause same condition - hypohidrotic ectodermal dysplasia). Decision to demote EDA to Red as phenotype unlikely to be detectable prenatally.
Created: 11 Aug 2022, 2:42 p.m. | Last Modified: 11 Aug 2022, 2:42 p.m.
Panel Version: 1.900
Created: 11 Aug 2022, 2:42 p.m.
Last Modified: 11 Aug 2022, 2:42 p.m.
Panel version: 1.900

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ECTODERMAL DYSPLASIA TYPE 1 and Confirmed for TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for ECTODERMAL DYSPLASIA TYPE 1, and listed as All missense/in frame for ZTOOTH AGENESIS SELECTIVE X-LINKED TYPE 1.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 1

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: EDA. Tag Q3_22_NHS_review was removed from gene: EDA.

30 Jan 2023, Gel status: 1

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to EDA. Source NHS GMS was added to EDA. Rating Changed from Green List (high evidence) to Red List (low evidence)

13 Oct 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_expert_review was removed from gene: EDA.

13 Oct 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_expert_review tag was added to gene: EDA.

19 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EDA were changed from TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1; ECTODERMAL DYSPLASIA TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100

19 Aug 2022, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: EDA. Tag Q3_22_NHS_review tag was added to gene: EDA.

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 for gene: EDA

8 Nov 2018, 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 Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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 TYPE 1