Retinal disorders

Gene: PITPNM3

Red List (low evidence)

never confirmed - little evidence

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Red List (low evidence)

One heterozygous variant found in some individuals segregating dominant cone-rod dystrophy in 2007 in two Swedish families. BUT this is common in Gnomad (too common to cause a rare dominant disorder). The known cone-rod dominant gene GUCY2D is only 1.5Mb away on chromosome 17. No other reports of this gene associated with retinal dystrophies.

Created: 9 May 2018, 4:38 p.m.

Publications

• https://www.ncbi.nlm.nih.gov/pubmed/17377520

Keep as red - see Reviewer comments.

Created: 1 Jun 2018, 2:08 p.m.

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, 8:05 a.m.

Comment on list classification: Expert review demoted this gene from green to red due to lack of segregation with disease.

Created: 1 Jun 2016, 12:15 p.m.