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| Oligodontia v0.5 | WNT10B |
Ain Roesley gene: WNT10B was added gene: WNT10B was added to Oligodontia. Sources: Literature Mode of inheritance for gene: WNT10B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WNT10B were set to 27321946; 29364501; 21554266; 31050392 Phenotypes for gene: WNT10B were set to Tooth agenesis, selective, 8 MIM#617073 Penetrance for gene: WNT10B were set to unknown Review for gene: WNT10B was set to GREEN Added comment: PMID: 27321946; 4 unrelated families (including 1 with 3 affecteds). 3x missense and 1x truncating. Luciferase assays demonstrated LoF compared to WT. PMID: 29364501; 7 unrelated families all missense. Arg159Pro identified in 4 families and family#5 also had variants in WNT10A. Re-evaluation of a previously reported family #8 - 1 heterozygote who only had tooth agenesis while 6 other relatives who were homozygotes also had split hand-foot malformation NOTE: No genotype phenotype correlation between AD tooth agenesis and AR split hand-foot malformation - missense have also been reported in SHFM (PMID: 31050392). While it's noted that most reports of SHFM did not investigate oligodontia in their patients or carrier parents, PMID: 21554266 noted their carrier parents were healthy and clinically distinguishable Sources: Literature |
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| Oligodontia v0.4 | WNT10A | Zornitza Stark Marked gene: WNT10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.4 | WNT10A | Zornitza Stark Gene: wnt10a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.4 | WNT10A | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.3 | WNT10A | Zornitza Stark Publications for gene: WNT10A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.2 | WNT10A | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.1 | WNT10A | Michelle Torres reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia 257980 AR, Schopf-Schulz-Passarge syndrome 224750 AR, Tooth agenesis, selective, 4 150400 AR, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Oligodontia v0.0 | WNT10A |
Zornitza Stark 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 |
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