Ectodermal dysplasia without a known gene mutation

Gene: WNT10A

Green List (high evidence)

WNT10A (Wnt family member 10A)
EnsemblGeneIds (GRCh38): ENSG00000135925
EnsemblGeneIds (GRCh37): ENSG00000135925
OMIM: 606268, Gene2Phenotype
WNT10A is in 3 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Hypohidrotic ectodermal dysplasia; Schopf-Schulz-Passarge syndrome

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in Odontoonychodermal dysplasia 257980
Created: 10 Aug 2016, 11:20 a.m.
Comment on phenotypes: Also associated with Tooth agenesis, selective, 4 150400 (monoallelic)
Created: 10 Aug 2016, 11:19 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Odontoonychodermal dysplasia 257980
  • Schopf-Schulz-Passarge syndrome 224750
OMIM
606268
Clinvar variants
Variants in WNT10A
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

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

10 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WNT10A were set to Odontoonychodermal dysplasia 257980; Schopf-Schulz-Passarge syndrome 224750

10 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

10 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for WNT10A was changed to BIALLELIC, autosomal or pseudoautosomal

10 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WNT10A were set to Odontoonychodermal dysplasia 257980; Schopf-Schulz-Passarge syndrome 224750

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing