Arthrogryposis
Gene: BICD2EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Arthrogryposis is a feature in some affected individuals.Created: 2 Mar 2020, 5:28 a.m. | Last Modified: 2 Mar 2020, 5:28 a.m.
Panel Version: 0.22
Elena Savva (Victorian Clinical Genetics Services)
OMIM describes an established pathogenic variant (p.T703M) as inherited from an unaffected parent - has 2 hets in gnomAD
Requested for entry to this gene list following VPC - found several papers noting patient w/ Arthrogryposis
Sources: LiteratureCreated: 2 Mar 2020, 4:49 a.m.
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
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290
- Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
- OMIM
- 609797
- Clinvar variants
- Variants in BICD2
- Penetrance
- Incomplete
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bicd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bicd2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Elena Savva (Victorian Clinical Genetics Services)gene: BICD2 was added gene: BICD2 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to PMID: 28635954; 27751653 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 Penetrance for gene: BICD2 were set to Incomplete Review for gene: BICD2 was set to GREEN