Cerebellar hypoplasia
Gene: B4GAT1EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
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"Created: 17 Aug 2021, 2:14 p.m. | Last Modified: 17 Aug 2021, 2:14 p.m.
Panel Version: 1.57
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
- OMIM
- 605517
- Clinvar variants
- Variants in B4GAT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Cerebellar hypoplasia
- Arthrogryposis
- Fetal anomalies
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: b4gat1 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: B4GAT1 were set to 23359570
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Added New Source
Alice Gardham (Genomics England)B4GAT1 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Literature
Created
Alice Gardham (Genomics England)B4GAT1 was created by agardham