Retinal disorders

Gene: PCYT1A

Green List (high evidence)

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.

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

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

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.