Oligodontia
Gene: WNT10AEnsemblGeneIds (GRCh38): ENSG00000135925
EnsemblGeneIds (GRCh37): ENSG00000135925
OMIM: 606268, Gene2Phenotype
WNT10A is in 6 panels
2 reviews
Michelle Torres (Victorian Clinical Genetics Services)
Genotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266)Created: 8 May 2020, 2:43 a.m. | Last Modified: 8 May 2020, 2:43 a.m.
Panel Version: 0.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Odontoonychodermal dysplasia 257980 AR
- Schopf-Schulz-Passarge syndrome 224750 AR
- Tooth agenesis, selective, 4 150400 AR, AD
- OMIM
- 606268
- Clinvar variants
- Variants in WNT10A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt10a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNT10A were changed from to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WNT10A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNT10A was added gene: WNT10A was added to Oligodontia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT10A was set to Unknown