Adult onset neurodegenerative disorder
Gene: BCAP31EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Congenital onsetCreated: 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)
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 RedCreated: 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 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
-
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Monogenic hearing loss
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
History Filter Activity
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)
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)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to BCAP31.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: bcap31 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BCAP31.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to BCAP31.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
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