Paediatric motor neuronopathies
Gene: BICD2Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3Created: 18 Mar 2021, 2:58 p.m. | Last Modified: 18 Mar 2021, 2:58 p.m.
Panel Version: 1.39
Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3Created: 18 Mar 2021, 2:58 p.m. | Last Modified: 18 Mar 2021, 2:58 p.m.
Panel Version: 1.38
Can also be associated with Hereditary spastic paraparesis and /or cortical migration disorderCreated: 2 Mar 2017, 3:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lower limb SMA; early onset; distal wasting; brisk or absent reflexes
Mutations reported in at least ten affected familiesCreated: 26 Jan 2017, 11:19 a.m.
Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Mode of inheritance for BICD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
BICD2 was added to Paediatric motor neuronopathiespanel. Sources: Expert
BICD2 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen