Hereditary spastic paraplegia - childhood onset

Gene: BCAS3

Amber List (moderate evidence)

BCAS3 (BCAS3, microtubule associated cell migration factor)
EnsemblGeneIds (GRCh38): ENSG00000141376
EnsemblGeneIds (GRCh37): ENSG00000141376
OMIM: 607470, Gene2Phenotype
BCAS3 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update (see details below).
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Hengel et al. 2021 (PMID: 34022130) report 8 unrelated families, all with different biallelic variants in the BCAS3 gene. All affected individuals (15 total, +1 additional proband but with unphased variants but consistent phenotype) had severe GDD and ID, with 10 subjects having minimal vocabulary and 4 never learning to speak. All probands had a severe motor disorder with pyramidal tract involvement resulting in hyperreflexia and spasticity of the lower limbs (15/15). Other variable features observed in the cohort include microcephaly, short stature, seizures, and dysmorphic facial features.
Created: 23 Jun 2021, 10:26 a.m. | Last Modified: 23 Jun 2021, 10:26 a.m.
Panel Version: 3.1143

Zornitza Stark (Australian Genomics)

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.
Sources: Literature
Created: 11 Jun 2021, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic neurodevelopmental disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Syndromic neurodevelopmental disorder
Tags
Q2_21_rating
OMIM
607470
Clinvar variants
Variants in BCAS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jun 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: BCAS3 was added gene: BCAS3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: BCAS3. 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