Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: BICD2
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
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
Four unrelated cases/families have been reported with a mainly adult onset myopathy
Sources: Expert listCreated: 17 Jun 2020, 2:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Distal myopathy
Publications
Gene: bicd2 has been classified as Green List (High Evidence).
Gene: bicd2 has been classified as Green List (High Evidence).
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