Structural eye disease
Gene: TTC8EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8; 613464; 615985
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Retinitis pigmentosa 51, 613464
- Bardet-Biedl syndrome 8, 615985
- Eye Disorders
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- None
- 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
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TTC8. Mode of inheritance for gene TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTC8 was added gene: TTC8 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TTC8 was set to Phenotypes for gene: TTC8 were set to Eye Disorders