BORCS8

BLOC-1 related complex subunit 8
OMIM: 616601, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green BORCS8 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987

Green BORCS8 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987

    Green BORCS8 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987

    Green BORCS8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987

    Green BORCS8 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987