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  3. TTC8
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Ataxia - paediatric

Gene: TTC8

Red List (low evidence)
TTC8 (tetratricopeptide repeat domain 8)
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 7 Jul 2021, 7:45 a.m. | Last Modified: 7 Jul 2021, 7:45 a.m.
Panel Version: 0.8242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 8, MIM# 615985

Publications

Created: 7 Jul 2021, 7:45 a.m.
Last Modified: 7 Jul 2021, 7:45 a.m.
Panel version: Imported from Mendeliome panel version 0.8242

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of this subtype of BBS
Sources: Expert list
Created: 17 Jan 2020, 12:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 8, 615985

Created: 17 Jan 2020, 12:55 a.m.

Panel version: 0.44

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc8 has been classified as Red List (Low Evidence).

17 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TTC8 was added gene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 Review for gene: TTC8 was set to RED