Lissencephaly and Band Heterotopia
Gene: CRADD

CRADD (CASP2 and RIPK1 domain containing adaptor with death domain)
EnsemblGeneIds (GRCh38): ENSG00000169372
EnsemblGeneIds (GRCh37): ENSG00000169372
OMIM: 603454, Gene2Phenotype
CRADD is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex.
Created: 24 Aug 2020, 10:40 a.m. | Last Modified: 24 Aug 2020, 10:54 a.m.

Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499

Publications

27773430

Created: 24 Aug 2020, 10:40 a.m.
Last Modified: 24 Aug 2020, 10:54 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499

OMIM

603454

Clinvar variants

Variants in CRADD

Penetrance

None

Publications

27773430

Panels with this gene