PanelApp (staging)
  1. Genes and Genomic Entities
  2. PCYT1A

PCYT1A

phosphate cytidylyltransferase 1, choline, alpha
OMIM: 123695, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber PCYT1A in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 5, MIM# 620680

Green PCYT1A in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940
  • Lipodystrophy, congenital generalized, type 5, MIM# 620680

Green PCYT1A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

Green PCYT1A in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.219

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940

    Green PCYT1A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)

    Red PCYT1A in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940

    Green PCYT1A in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940