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  2. Hydrocephalus_Ventriculomegaly
  3. B4GAT1
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Hydrocephalus_Ventriculomegaly

Gene: B4GAT1

Amber List (moderate evidence)
B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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
Created: 15 Jun 2020, 2:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287

Publications

Created: 15 Jun 2020, 2:09 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
OMIM
605517
Clinvar variants
Variants in B4GAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4gat1 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4gat1 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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