Ciliopathies
Gene: TTC8
TTC8 (tetratricopeptide repeat domain 8)
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 8 Oct 2020, 3:32 a.m. | Last Modified: 8 Oct 2020, 3:32 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 8, MIM# 615985
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bardet-Biedl syndrome 8, MIM# 615985
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Severe early-onset obesity
- Bardet Biedl syndrome
History Filter Activity
7 Jul 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc8 has been classified as Green List (High Evidence).
7 Jul 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
7 Jul 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTC8 were set to
7 Jul 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTC8 was added gene: TTC8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC8 was set to Unknown