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  3. BCAP31
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Dystonia - complex

Gene: BCAP31

Green List (high evidence)
BCAP31 (B-cell receptor associated protein 31)
EnsemblGeneIds (GRCh38): ENSG00000185825
EnsemblGeneIds (GRCh37): ENSG00000185825
OMIM: 300398, Gene2Phenotype
BCAP31 is in 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association with affecting individuals presenting with a range of neurological features - severe motor and language delays, intellectual disability, sensorineural hearing loss, dystonia, and central hypomyelination.

Classified as Definitive by ClinGen ID and Autism GCEP on 02/08/2023 - https://search.clinicalgenome.org/CCID:004245
Created: 5 Dec 2024, 5:36 a.m. | Last Modified: 5 Dec 2024, 5:36 a.m.
Panel Version: 0.242

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334

Publications

Created: 5 Dec 2024, 5:36 a.m.
Last Modified: 5 Dec 2024, 5:36 a.m.
Panel version: 0.242

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, MIM#300475
OMIM
300398
Clinvar variants
Variants in BCAP31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, MIM#300475

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCAP31 were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BCAP31 was added gene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,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