Hereditary neuropathy
Gene: BICD2EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 8 panels
7 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
One C3 in Bristol. Clear associations with SMA-LED which should form part of this panel. PMID:23664116 - segregating in family. Some in vitro evidence that golgi was affectedCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 4 May 2016, 9:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
- OMIM
- 609797
- Clinvar variants
- Variants in BICD2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: BICD2 were set to 23664116; 23664120; 25497877
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: BICD2 were set to 23664116
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 for gene: BICD2 Publications for gene BICD2 were changed from to 23664116
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to BICD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BICD2.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to BICD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BICD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BICD2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list