Optic neuropathy
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: 2.75
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 Optic neuropathy. 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