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 - narrow panel


Version 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.21
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Childhood onset hereditary spastic paraplegia


    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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