Ectodermal dysplasia without a known gene mutation
Gene: WNT10A

WNT10A (Wnt family member 10A)
EnsemblGeneIds (GRCh38): ENSG00000135925
EnsemblGeneIds (GRCh37): ENSG00000135925
OMIM: 606268, Gene2Phenotype
WNT10A is in 2 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Hypohidrotic ectodermal dysplasia; Schopf-Schulz-Passarge syndrome

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

Panel version: 0

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.

Created: 10 Aug 2016, 11:19 a.m.

Panel version: 0.118

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, OMIM:257980
Schopf-Schulz-Passarge syndrome, OMIM:224750

OMIM

606268

Clinvar variants

Variants in WNT10A

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WNT10A were changed from Odontoonychodermal dysplasia 257980; Schopf-Schulz-Passarge syndrome 224750 to Odontoonychodermal dysplasia, OMIM:257980; Schopf-Schulz-Passarge syndrome, OMIM:224750

10 Aug 2016, Gel status: 4