White matter disorders and cerebral calcification - narrow panel
Gene: BLOC1S1
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment 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 a Green rating on this panel is justified given the number of unrelated families presenting a relevant phenotype meets the criteria.Created: 31 Aug 2022, 2:17 p.m. | Last Modified: 31 Aug 2022, 2:17 p.m.
Panel Version: 1.244
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.
Tag Q3_22_rating was removed from gene: BLOC1S1.
Source NHS GMS was added to BLOC1S1. Source Expert Review Green was added to BLOC1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).
Tag watchlist was removed from gene: BLOC1S1. Tag Q3_22_rating tag was added to gene: BLOC1S1.
gene: BLOC1S1 was added gene: BLOC1S1 was added to White matter disorders and cerebral calcification - narrow panel. 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