BORCS5

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber BORCS5 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
  • neurodevelopmental disorder, MONDO:0700092
Amber BORCS5 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
  • neurodevelopmental disorder, MONDO:0700092
Amber BORCS5 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
  • neurodevelopmental disorder, MONDO:0700092
Green BORCS5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Arthrogryposis multiplex congenita, brain malformations
Tags
  • gene-checked
Amber BORCS5 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

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
    • arthrogryposis multiplex congenita, MONDO:0015168
    • neurodevelopmental disorder, MONDO:0700092
    Amber BORCS5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • arthrogryposis multiplex congenita, MONDO:0015168
    • neurodevelopmental disorder, MONDO:0700092