Genes in panel

Neurodegenerative disorders - adult onset

Gene: BCAP31

Red List (low evidence)

BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 11 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Congenital onset
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
Unknown

Phenotypes
Deafness, dystonia and cerebellar hypomyelination, 300475

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

Green List (high evidence)

Green gene on Early onset dystonia panel. XL inheritance. 7 affected males in 3 families (24011989);
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
Unknown

Phenotypes
Deafness, dystonia and cerebellar hypomyelination, 300475

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
OMIM
300398
Clinvar variants
Variants in BCAP31
Penetrance
None
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to BCAP31. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Jul 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to BCAP31.

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcap31 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BCAP31.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to BCAP31.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: BCAP31 was added gene: BCAP31 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: BCAP31 was set to Unknown Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475