Severe early-onset obesity
Gene: TTC8EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
3 reviews
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Ayesha Ahmed (GEL)
Comment on list classification: expert opinion + assoc with BBS8. Evidence in literature - 3 familiesCreated: 1 Sep 2016, 11:54 a.m.
stephen o'rahilly (university of cambridge)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Obesity
- Bardet-Biedl syndrome 8, OMIM:615985
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to TTC8. Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TTC8 were set to Obesity;Bardet-Biedl syndrome 8
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ayesha Ahmed (GEL)Mode of inheritance for TTC8 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)TTC8 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory