Ectodermal dysplasia without a known gene mutation
Gene: WNT10A
Phenotypes
Hypohidrotic ectodermal dysplasia; Schopf-Schulz-Passarge syndrome
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in Odontoonychodermal dysplasia 257980Created: 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.
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
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for WNT10A were set to Odontoonychodermal dysplasia 257980; Schopf-Schulz-Passarge syndrome 224750
WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for WNT10A was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for WNT10A were set to Odontoonychodermal dysplasia 257980; Schopf-Schulz-Passarge syndrome 224750
WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
WNT10A was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing