1. Genes and Genomic Entities
  2. BLOC1S1

BLOC1S1

biogenesis of lysosomal organelles complex 1 subunit 1
OMIM: 601444, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green BLOC1S1 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • severe intellectual disability
    • severe global developmental delay
    • epilepsy
    Tags
    • gene-checked
    Amber BLOC1S1 in Optic neuropathy


    Level 2: Ophthalmology
    Version 6.51
    Latest signed off version: v6.46 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • severe intellectual disability
    • severe global developmental delay
    • epilepsy
    Tags
    • gene-checked
    Amber BLOC1S1 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • severe intellectual disability
    • severe global developmental delay
    • epilepsy
    Tags
    • gene-checked
    Amber BLOC1S1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • severe intellectual disability
    • severe global developmental delay
    • epilepsy
    Tags
    • watchlist
    • gene-checked
    Green BLOC1S1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.25
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • severe intellectual disability
    • severe global developmental delay
    • epilepsy
    Tags
    • gene-checked