Hereditary Neuropathy_CMT - isolated

Gene: BICD2

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

• 35896821

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, 11:11 p.m. | Last Modified: 2 May 2021, 11:11 p.m.

Panel Version: 0.75

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

• 23664116
• 23664119
• 23664120
• 27751653
• 28635954
• 30054298
• 29528393