Hereditary Spastic Paraplegia - paediatric
Gene: BCAS3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hengel-Maroofian-Schols syndrome, MIM# 619641
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.
All patients had hyperreflexia, spasticity.
Sources: LiteratureCreated: 7 Jun 2021, 6:05 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
Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Gene: bcas3 has been classified as Green List (High Evidence).
Gene: bcas3 has been classified as Green List (High Evidence).
gene: BCAS3 was added gene: BCAS3 was added to Hereditary Spastic Paraplegia - paediatric. 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 Review for gene: BCAS3 was set to GREEN gene: BCAS3 was marked as current diagnostic