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Skeletal dysplasia

Gene: PCYT1A

Green List (high evidence)

PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)
EnsemblGeneIds (GRCh38): ENSG00000161217
EnsemblGeneIds (GRCh37): ENSG00000161217
OMIM: 123695, Gene2Phenotype
PCYT1A is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Spondylometaphyseal dysplasias gp of SD. >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PCYT1A; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 29 Jul 2016, 11:42 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
123695
Clinvar variants
Variants in PCYT1A
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 for gene: PCYT1A

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PCYT1A. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PCYT1A was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

PCYT1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PCYT1A was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PCYT1A was added to Unexplained skeletal dysplasiapanel. Sources: