BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: BICD2

BICD2 (BICD cargo adaptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; manju_list; neuro_20160418_strict; All missense/in frame
Created: 7 Feb 2017, 4:13 p.m.

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

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290;

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:13 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290

OMIM

609797

Clinvar variants

Variants in BICD2

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BICD2 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source