Lissencephaly and Band Heterotopia
Gene: B3GALNT2EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Structural brain abnormalities are prominent, including polymicrogyria, hydrocephalus, cerebellar cysts, pontocerebellar hypoplasia, frontotemporal leukoencephalopathy, and cobblestone lissencephaly.Created: 28 Aug 2020, 10:31 a.m. | Last Modified: 28 Aug 2020, 10:31 a.m.
Panel Version: 0.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Prepair 1000+
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b3galnt2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: B3GALNT2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: B3GALNT2 was added gene: B3GALNT2 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to Unknown