Cerebellar hypoplasia
Gene: B4GAT1Comment 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"Created: 17 Aug 2021, 2:14 p.m. | Last Modified: 17 Aug 2021, 2:14 p.m.
Panel Version: 1.57
Only one family. Supported by zebrafish model. Offered on UKGTN. not on G2PCreated: 14 Nov 2016, 3:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Publications
Gene: b4gat1 has been classified as Green List (High Evidence).
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
Publications for gene: B4GAT1 were set to 23359570
22/02/2017: Panel revised after internal clinical review and further curation.
B4GAT1 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Literature
B4GAT1 was created by agardham