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Skeletal Dysplasia_Fetal v0.110 | Zornitza Stark removed gene:WNT10B from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.91 | WNT10B |
Krithika Murali gene: WNT10B was added gene: WNT10B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT10B were set to 20635353; 24211389; 27321946 Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 - MIM#225300 Review for gene: WNT10B was set to GREEN Added comment: Biallelic variants associated with split hand/foot malformation. Reported in >3 unrelated families, with a Pakistani bias. Detectable on antenatal ultrasound. Sources: Expert list, Literature |
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Skeletal Dysplasia_Fetal v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT1 was set to Unknown |