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  3. TTC26
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Cholestasis

Gene: TTC26

Green List (high evidence)
TTC26 (tetratricopeptide repeat domain 26)
EnsemblGeneIds (GRCh38): ENSG00000105948
EnsemblGeneIds (GRCh37): ENSG00000105948
OMIM: 617453, Gene2Phenotype
TTC26 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Created: 4 Jul 2021, 4:44 a.m. | Last Modified: 4 Jul 2021, 4:46 a.m.
Panel Version: 0.197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Publications

Created: 4 Jul 2021, 4:44 a.m.
Last Modified: 4 Jul 2021, 4:46 a.m.
Panel version: 0.204

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
  • Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
OMIM
617453
Clinvar variants
Variants in TTC26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

4 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc26 has been classified as Green List (High Evidence).

4 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc26 has been classified as Green List (High Evidence).

4 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTC26 was added gene: TTC26 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903 Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Review for gene: TTC26 was set to GREEN