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| Cerebellar hypoplasia v1.57 | B4GAT1 | Ivone Leong Classified gene: B4GAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.57 | B4GAT1 |
Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review. This gene is also recommended for promotion to Green status on the Malformations of cortical development (v2.59) panel. With the following review from Zornitza Stark: "Two families and two animal models. Extensive brain abnormalities reported. Zornitza Stark (Australian Genomics), 24 Aug 2020" |
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| Cerebellar hypoplasia v1.57 | B4GAT1 | Ivone Leong Gene: b4gat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.56 | B4GAT1 | Ivone Leong Phenotypes for gene: B4GAT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.55 | B4GAT1 | Ivone Leong Publications for gene: B4GAT1 were set to 23359570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia | B4GAT1 | Alice Gardham added B4GAT1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia | B4GAT1 | Alice Gardham reviewed B4GAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||