Retinal disorders
Gene: INPP5EEnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
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, 8:04 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- Complete
- Publications
-
- 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.
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Ocular coloboma
- Differences in sex development
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to INPP5E. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set publications
Ellen McDonagh (Genomics England Curator)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.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INPP5E were set to
Set publications
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for INPP5E was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)INPP5E was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)INPP5E was created by ellenmcdonagh