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Mendeliome

Gene: BCAS3

Green List (high evidence)

BCAS3 (BCAS3, microtubule associated cell migration factor)
EnsemblGeneIds (GRCh38): ENSG00000141376
EnsemblGeneIds (GRCh37): ENSG00000141376
OMIM: 607470, Gene2Phenotype
BCAS3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hengel-Maroofian-Schols syndrome, MIM# 619641

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 7 Jun 2021, 5:31 a.m. | Last Modified: 7 Jun 2021, 5:31 a.m.
Panel Version: 0.7891

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641
OMIM
607470
Clinvar variants
Variants in BCAS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

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

11 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCAS3 were changed from to Syndromic neurodevelopmental disorder

11 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCAS3 were set to

11 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BCAS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: bcas3 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCAS3 was added gene: BCAS3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BCAS3 was set to Unknown