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Optic neuropathy

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, 2:19 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

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
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

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: BLOC1S1.

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 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