PanelApp
  1. Genes and Genomic Entities
  2. BORCS5

BORCS5

BLOC-1 related complex subunit 5
OMIM: 616598, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green BORCS5 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green BORCS5 in Mendeliome


    Version 1.3470

    		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 1.349

    		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 1.49

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews 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 0.38

    		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 1.23

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews 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 1.255

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews 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 0.590

    		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 1.388

    		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 1.461

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