POGLUT1

protein O-glucosyltransferase 1
OMIM: 615618, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green POGLUT1 in Pigmentary skin disorders


Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DDD4
  • DOWLING-DEGOS DISEASE 4
  • Dowling-Degos disease

Amber POGLUT1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.31
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    Phenotypes
    • ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
    Tags
    • watchlist

    Amber POGLUT1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232

    Red POGLUT1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services