| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Marked gene: B4GAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.18 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.17 | B4GAT1 |
Elena Savva gene: B4GAT1 was added gene: B4GAT1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to PMID: 23359570; 23877401 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 Review for gene: B4GAT1 was set to AMBER Added comment: aka B3GNT1 (OMIM) PMID: 23359570 - One family with congenital muscular dystrophy. Index patient had hydrocephalus, seizures, severe hypotonia and retinal dysplasia. Patients were homozygous for TWO missense PMID: 23877401 - One family with congenital onset Walker-warburg syndrome and hydrocephalus, seizure and cognitive impairment. Summary: 2 families with hydrocephalus Sources: Expert list |
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