White matter disorders and cerebral calcification - narrow panel
Gene: BCAP31
BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 10 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BCAP31 was added gene: BCAP31 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475