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| Cerebellar and Pontocerebellar Hypoplasia v0.21 | B3GALNT2 | Zornitza Stark Marked gene: B3GALNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.21 | B3GALNT2 | Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.21 | B3GALNT2 | Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.21 | B3GALNT2 | Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.19 | B3GALNT2 |
Elena Savva gene: B3GALNT2 was added gene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to PMID: 23453667; 29791932 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 Review for gene: B3GALNT2 was set to GREEN Added comment: PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5. PMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts Sources: Expert Review |
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