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Prepair 1000+

Gene: TTC8

Green List (high evidence)

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay. At least 6 unrelated families reported.
Created: 22 Jan 2025, 4:28 a.m. | Last Modified: 22 Jan 2025, 4:28 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 8, MIM #615985

Publications

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTC8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bardet-Biedl syndrome 8, 615985 (3) for gene: TTC8

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTC8 was added gene: TTC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)