Retinal disorders
Gene: PCYT1A
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.
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
Variants in this GENE are reported as part of current diagnostic practice
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
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.
Source NHS GMS was added to PCYT1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for PCYT1A were set to Several publications on HGMD in patients with Spondylometaphyseal dysplasia with cone-rod dystrophy
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PCYT1A was changed to BIALLELIC, autosomal or pseudoautosomal
PCYT1A was created by ellenmcdonagh
PCYT1A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green