Bardet-Biedl Syndrome
Gene: TTC8EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
1 review
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Bardet‐Biedl syndrome 8
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- Complete
- Publications
-
- PMID: 14520415
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TTC8 were set to PMID: 14520415
Added New Source
Ellen McDonagh (Genomics England Curator)TTC8 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()TTC8 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()TTC8 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()TTC8 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()TTC8 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN