Polymicrogyria and Schizencephaly
Gene: BICD2

BICD2 (BICD cargo adaptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Mild polymicrogyria described in SMA, 2B.
Created: 6 Mar 2020, 7:36 a.m. | Last Modified: 6 Mar 2020, 7:36 a.m.

Panel Version: 0.33

Created: 6 Mar 2020, 7:36 a.m.
Last Modified: 6 Mar 2020, 7:36 a.m.
Panel version: 0.33

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Potential reduced penetrance: a single established variant has being inherited from an unaffected parent. The parent had some features on MRI but was clinically asymptomatic (OMIM, PMID: 28635954)

Missense are LOF - result in enhanced dynein binding and BICD2 accumulation, however this causes mutant BICD2 to be sequestered near the microtubule organization centre, ultimatly resulting in a loss of its wild-type function
Created: 6 Mar 2020, 2:28 a.m. | Last Modified: 6 Mar 2020, 2:28 a.m.

Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A. MIM: 615290; Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291

Publications

PMID: 28635954
32057122

Created: 6 Mar 2020, 2:28 a.m.
Last Modified: 6 Mar 2020, 2:28 a.m.
Panel version: 0.30

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291

OMIM

609797

Clinvar variants

Variants in BICD2

Penetrance

None

Publications

Panels with this gene