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| Cobblestone Malformations v0.25 | POMGNT1 | Zornitza Stark Marked gene: POMGNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.25 | POMGNT1 | Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.25 | POMGNT1 | Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.24 | POMGNT1 | Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.23 | POMGNT1 | Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cobblestone Malformations v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: POMGNT1 was set to Unknown |
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