Cerebellar and Pontocerebellar Hypoplasia
Gene: B3GALNT2EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 13 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 23453667 - 5 unrelated patients reviewed, all less than 2 years old. Pontocerebellar hypoplasia reported in 2/5, cerebellar dysplasia in 2/5.
PMID: 29791932 - 1 patient w/ pontocerebellar hypoplasia. Reviews previous reports and notes an additional two patients with hypoplastic pons and cerebellar cysts
Sources: Expert ReviewCreated: 15 Apr 2020, 5:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b3galnt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: B3GALNT2 was added gene: B3GALNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to PMID: 23453667; 29791932 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 Review for gene: B3GALNT2 was set to GREEN