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  3. BLOC1S1
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Early onset or syndromic epilepsy

Gene: BLOC1S1

Amber List (moderate evidence)
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)

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 the number of unrelated families presenting the relevant phenotype meets the criteria for an Amber rating at this time.
Created: 31 Aug 2022, 2:20 p.m. | Last Modified: 31 Aug 2022, 2:20 p.m.
Panel Version: 2.590
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

Created: 28 Jul 2022, 2:40 p.m.
Last Modified: 28 Jul 2022, 2:40 p.m.
Copied from panel: Intellectual disability v3.1700

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

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

Copied from panel: Intellectual disability v3.1700

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • severe intellectual disability
  • severe global developmental delay
  • epilepsy
Tags
watchlist gene-checked
OMIM
601444
Clinvar variants
Variants in BLOC1S1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

31 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).

31 Aug 2022, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: BLOC1S1 was added gene: BLOC1S1 was added to Genetic epilepsy syndromes. 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