Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: BICD2

Green List (high evidence)

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

3 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

2 homozygous patients in PMID:35896821 with ID, dysmorphic features, and brain abnormalities. No peripheral neuropathy noted in these individuals. The variants are 1 missense, 1 stopgain- most previous cases are heterozygous missense so this is possibly a new AR LOF mechanism.
Created: 4 Aug 2022, 6:53 a.m. | Last Modified: 4 Aug 2022, 6:53 a.m.
Panel Version: 1.213

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), BICD2-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some individuals may show upper extremity involvement.

SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging.

Multiple families reported with each type and Drosophila model.
Created: 2 May 2021, 11:13 p.m. | Last Modified: 2 May 2021, 11:13 p.m.
Panel Version: 0.7459

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Four unrelated cases/families have been reported with a mainly adult onset myopathy
Sources: Expert list
Created: 17 Jun 2020, 2:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Distal myopathy

Publications

History Filter Activity

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bicd2 has been classified as Green List (High Evidence).

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bicd2 has been classified as Green List (High Evidence).

13 Apr 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BICD2 was added gene: BICD2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 27784775; 28635954; 31561939; 29306765 Phenotypes for gene: BICD2 were set to distal myopathy MONDO:0018949