1. Genes and Genomic Entities
  2. POC5

POC5

POC5 centriolar protein
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber POC5 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    • muscle cramps
    Tags
    • Q3_25_promote_green
    • dd_review
    Amber POC5 in Lipodystrophy - childhood onset


    Level 2: Endocrinology
    Version 4.67
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    Tags
    • Q3_25_promote_green
    Amber POC5 in Monogenic diabetes


    Level 2: Endocrinology
    Version 3.10
    Latest signed off version: v3.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    Tags
    • Q3_25_promote_green
    Amber POC5 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • RetNet
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review
    Amber POC5 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    Tags
    • Q3_25_promote_green
    Amber POC5 in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy
    • diabetes mellitus
    • lipodystrophy
    • renal failure
    • abnormal muscle physiology
    • muscle cramps
    Tags
    • Q3_25_promote_green
    • dd_review