Intellectual disability
Gene: BLOC1S1

BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000135441
EnsemblGeneIds (GRCh37): ENSG00000135441
OMIM: 601444, Gene2Phenotype
BLOC1S1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.

Panel Version: 4.53

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: 3.1701

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

33875846

Created: 28 Jul 2022, 2:40 p.m.
Last Modified: 28 Jul 2022, 2:40 p.m.
Panel version: 4.53

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

4 cases with similar phenotype and inheritance reported
Sources: Literature
Created: 16 Oct 2021, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe intellectual disability; severe global developmental delay; epilepsy

Publications

PMID: 33875846

Created: 16 Oct 2021, 1:48 p.m.

Panel version: 3.1367

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

severe intellectual disability
severe global developmental delay
epilepsy

Tags

gene-checked

OMIM

601444

Clinvar variants

Variants in BLOC1S1

Penetrance

unknown

Publications

33875846

Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: BLOC1S1.

30 Jan 2023, Gel status: 3