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Prepair 1000+

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 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Promote to Green at V2.
Created: 19 Aug 2024, 1:04 a.m. | Last Modified: 19 Aug 2024, 1:04 a.m.
Panel Version: 1.168
Created: 19 Aug 2024, 1:04 a.m.
Last Modified: 19 Aug 2024, 1:04 a.m.
Panel version: 1.168

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Evidence of gene-disease association - reported in >20 families. Phenotype is severe in affected males, involving intellectual disability, dystonia, deafness, and central hypomyelination, microcephaly. Age of onset in infancy or within first few years of life.
Carrier females mostly reported to be unaffected, however, some studies indicate hearing impairment can be present (PMID: 32681719; 33603160).
Created: 29 Jul 2024, 6:23 a.m. | Last Modified: 29 Jul 2024, 6:23 a.m.
Panel Version: 1.65

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

Phenotypes
Deafness, dystonia, and cerebral hypomyelination MIM#300475; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334

Publications

Created: 29 Jul 2024, 6:23 a.m.
Last Modified: 29 Jul 2024, 6:23 a.m.
Panel version: 1.65

Details

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

History Filter Activity

19 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcap31 has been classified as Red List (Low Evidence).

19 Aug 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: BCAP31.

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCAP31 was added gene: BCAP31 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 31330203; 24011989; 33603160 Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475