1. Genes and Genomic Entities
  2. PCYT1A

PCYT1A

phosphate cytidylyltransferase 1, choline, alpha
OMIM: 123695, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green PCYT1A in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Amber PCYT1A in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, OMIM:608940
  • congenital generalized lipodystrophy, MONDO:0006536
  • Insulin resistance, HP:0000855
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
No list PCYT1A in Monogenic diabetes


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy
Tags
  • curated_removed
Green PCYT1A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
    • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
    Green PCYT1A in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
    Green PCYT1A in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940
    Red PCYT1A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
    Green PCYT1A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
    Green PCYT1A in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940