Hereditary Spastic Paraplegia - adult onset
Gene: BICD2EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One family reported with a heterozygous missense in an adult-onset ADHSP family (PMID: 23664120, 25497877), and one homozygous missense in an early-onset HSP family (PMID: 24482476).
Sources: Expert listCreated: 31 Dec 2019, 5:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290
- Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291
- OMIM
- 609797
- Clinvar variants
- Variants in BICD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Motor Neurone Disease
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bicd2 has been classified as Amber List (Moderate Evidence).
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 Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BICD2 were set to 23664120; 25497877; 24482476 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Review for gene: BICD2 was set to AMBER