PanelApp
  1. Genes and Genomic Entities
  2. BORCS5

BORCS5

BLOC-1 related complex subunit 5
OMIM: 616598, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green BORCS5 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Mendeliome


    Version 1.3793

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.375

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Optic Atrophy


    Level 2: Ophthalmological disorders
    Version 1.64

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Red BORCS5 in Osteopetrosis


    Level 2: Skeletal disorders
    Version 0.98

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)

    Green BORCS5 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.24

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.307

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.496

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related

    Green BORCS5 in Fetal anomalies


    Version 1.481

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal storage disease, MONDO:0002561, BORCS5-related