Retinal disorders
Gene: TTC8
TTC8 (tetratricopeptide repeat domain 8)
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 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, 8:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Bardet-Biedl syndrome 8, 209900
- Retinitis pigmentosa 51, 613464
- Retinitis Pigmentosa, Recessive
- Retinitis pigmentosa
- ?Retinitis pigmentosa 51
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- Complete
- Panels with this gene
-
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Severe early-onset obesity
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TTC8. Rating Changed from Green List (high evidence) to Green List (high evidence)
23 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TTC8 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TTC8 was created by ellenmcdonagh