Motor Neurone Disease

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

Red List (low evidence)

Childhood onset, included in Hereditary Neuropathy_Isolated panel.

Created: 28 Sep 2020, 5:06 a.m. | Last Modified: 28 Sep 2020, 5:06 a.m.

Panel Version: 0.96

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291

Green List (high evidence)

Sources: Expert list
Loss of motor neurons one of the features of the disease

Created: 15 Jan 2020, 3:26 a.m. | Last Modified: 15 Jan 2020, 3:42 a.m.

Panel Version: 0.40

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

Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291