Lissencephaly and Band Heterotopia

Gene: B4GAT1

Green List (high evidence)

Two families and two animal models.

Created: 21 Apr 2020, 7:31 a.m. | Last Modified: 21 Apr 2020, 7:31 a.m.

Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 23359570
• 23877401
• 23359570
• 23217742

I don't know

Two families with variants in this gene have been described with insufficient evidence to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.

Created: 21 Apr 2020, 1:40 a.m. | Last Modified: 21 Apr 2020, 1:44 a.m.

Panel Version: 0.29

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

Publications

• PMID 23359570
• 23877401