Ectodermal Dysplasia
Gene: WNT10AEnsemblGeneIds (GRCh38): ENSG00000135925
EnsemblGeneIds (GRCh37): ENSG00000135925
OMIM: 606268, Gene2Phenotype
WNT10A is in 6 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Appears to be fully penetrant in PTC homozygotes, however missense compound heterozygotes and heterozygote carriers may be unaffected, or display only some phenotypic manifestationCreated: 7 Feb 2020, 4:50 a.m. | Last Modified: 7 Feb 2020, 4:50 a.m.
Panel Version: 0.1285
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
- OMIM
- 606268
- Clinvar variants
- Variants in WNT10A
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WNT10A was added gene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome