Retinal disorders
Gene: INPP5E
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, 8:04 a.m.
PMID: 25999675 - report of a female with retinal dystrophy (poor vision and night blindness) compound heterozygous for two variants with this gene, where family members were either carriers of one variant or neither.Created: 1 Jun 2016, 10:14 a.m.
On the Manchester retinal degeneration conditions panel, and is a confirmed DD gene for MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS and JOUBERT SYNDROME TYPE 1 (which include obsolete Nonprogressive congenital retinal dystrophy and Retinal dystrophy, respectively).
Created: 1 Jun 2016, 9:58 a.m.
Source NHS GMS was added to INPP5E. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for INPP5E were set to Review of the literature from Stephanie Barton (Manchester) - L Bielas et al (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036 ; Wang et al (2015) Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Invest Ophthalmol Vis Sci. Jun;56(6):3642-55; Travaglini et al (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. Oct;21(10):1074-8- Several other papers on HGMD.
Publications for INPP5E were set to
Publications for INPP5E were set to Review from Stephanie Barton: L Bielas et al (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036; Wang et al (2015) Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Invest Ophthalmol Vis Sci. Jun;56(6):3642-55; Travaglini et al (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. Oct;21(10):1074-8 - Several other papers on HGMD.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for INPP5E was changed to BIALLELIC, autosomal or pseudoautosomal
INPP5E was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
INPP5E was created by ellenmcdonagh