Adult onset hereditary spastic paraplegia
Gene: BICD2EnsemblGeneIds (GRCh38): ENSG00000185963
EnsemblGeneIds (GRCh37): ENSG00000185963
OMIM: 609797, Gene2Phenotype
BICD2 is in 8 panels
9 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 4:31 p.m. | Last Modified: 24 Feb 2025, 4:31 p.m.
Panel Version: 5.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
Although hereditary spastic paraplegia is not commonly associated with BICD2 variants, at least four heterozygous missense variants have been reported in unrelated cases, whose phenotype includes hereditary spastic paraplegia (PMID: 23664120;25497877;30536747;24482476 and personal communication from Nour Elkhateeb (Clinical Fellow, Genomics England).Created: 31 Jul 2024, 3:04 p.m. | Last Modified: 31 Jul 2024, 3:04 p.m.
Panel Version: 4.5
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
-
- Expert Review Green
- London North GLH
- Expert list
- South West GLH
- NHS GMS
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: BICD2. Tag Q3_24_NHS_review was removed from gene: BICD2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to BICD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: BICD2. Tag Q3_24_NHS_review tag was added to gene: BICD2.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sarah Leigh (Genomics England Curator)gene: BICD2 was added gene: BICD2 was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS,Expert Review Green,South West GLH,Expert list,London North GLH Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Penetrance for gene: BICD2 were set to Complete