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| Cerebellar and Pontocerebellar Hypoplasia v0.131 | POMT1 | Zornitza Stark Marked gene: POMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.131 | POMT1 | Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.131 | POMT1 | Zornitza Stark Classified gene: POMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.131 | POMT1 | Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.113 | POMT1 |
Crystle Lee gene: POMT1 was added gene: POMT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 24491487; 31311558 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155) Review for gene: POMT1 was set to GREEN Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (previously Walker-Warburg syndrome) and type B1 (OMIM) PMID: 24491487; Wallace 2015: Reports 3 patients and reviews variability of clinical outcomes associated with a single frameshift variant (ie h chet missense/fs associated with less severe phenotype). PMID: 31311558; Geis 2019: Multiple WWS families reported. Cerebellar hypoplasia is a consistent feature. Sources: Expert Review |
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