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Intellectual disability

Gene: BLOC1S1

No list

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

1 review

Dmitrijs Rots (RadboudUMC)

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

Details

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

History Filter Activity

20 Oct 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: BLOC1S1.

16 Oct 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: BLOC1S1 was added gene: BLOC1S1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to PMID: 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown Review for gene: BLOC1S1 was set to GREEN