Callosome
Gene: BCAS3EnsemblGeneIds (GRCh38): ENSG00000141376
EnsemblGeneIds (GRCh37): ENSG00000141376
OMIM: 607470, Gene2Phenotype
BCAS3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hengel-Maroofian-Schols syndrome, MIM# 619641
Paul De Fazio (Victorian Clinical Genetics Services)
15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.
Most patients had thin corpus callosum.
Sources: LiteratureCreated: 7 Jun 2021, 6:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic neurodevelopmental disorder
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hengel-Maroofian-Schols syndrome, MIM# 619641
- OMIM
- 607470
- Clinvar variants
- Variants in BCAS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: bcas3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: bcas3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: BCAS3 was added gene: BCAS3 was added to Callosome. Sources: Literature Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder gene: BCAS3 was marked as current diagnostic