Childhood onset hereditary spastic paraplegia
Gene: BLOC1S1Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that the number of unrelated families presenting the relevant phenotype meets the criteria for an Amber rating at this time.Created: 31 Aug 2022, 2:19 p.m. | Last Modified: 31 Aug 2022, 2:19 p.m.
Panel Version: 2.148
Four individuals from three unrelated consanguineous families each reported with different homozygous variants in the BLOC1S1 gene. Heterozygous carrier sibling in one family was unaffected. Phenotypes observed include ID (4/4), leukodystrophy/abnormal myelination (4/4), seizures (3/4), optic atrophy (3/4), spasticity (3/4).Created: 28 Jul 2022, 2:40 p.m. | Last Modified: 28 Jul 2022, 2:40 p.m.
Panel Version: 3.1634
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
4 cases with similar phenotype and inheritance reported
Sources: LiteratureCreated: 16 Oct 2021, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe intellectual disability; severe global developmental delay; epilepsy
Publications
Tag gene-checked tag was added to gene: BLOC1S1.
Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: BLOC1S1.
gene: BLOC1S1 was added gene: BLOC1S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature watchlist tags were added to gene: BLOC1S1. Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown