Retinitis pigmentosa_Autosomal Recessive/X-linked
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 51, 613464
- Bardet-Biedl syndrome 8, 209900
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- None
- 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
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TTC8 was added gene: TTC8 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC8 were set to Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 209900