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Retinal disorders

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

5 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Phenotypes might not be linked by clinicians so worth including on this panel.
Created: 7 Jun 2016, 12:13 p.m.

Stephanie Barton (Manchester Centre for Genomic Medicine)

I don't know

Not sure if patients would be referred with cone rod dystrophy or if this is a secondary finding to the Spondylometaphyseal dysplasia . We have not identified mutations in this gene in-house. Insufficient evidence to make a decision regarding the relevance of this gene.
Created: 1 Jun 2016, 11:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy

Publications

  • Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy

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

Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

I don't know

Confirmed the name of this gene to be PCYT1A on the expert list.
Created: 4 May 2016, 1:07 p.m.

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

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Comment on list classification: Was PCT1A on the submitted expert list. Is this the correct HGNC-approved name for this?
Created: 23 Mar 2016, 5:02 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
OMIM
123695
Clinvar variants
Variants in PCYT1A
Penetrance
Complete
Publications
  • Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

1 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PCYT1A were set to Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy

23 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCYT1A was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PCYT1A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green