TTC8

tetratricopeptide repeat domain 8
OMIM: 608132, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green TTC8 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 8, 615985

Green TTC8 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 51, 613464
  • Bardet-Biedl syndrome 8, 209900

Green TTC8 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, 615985 (3)

Green TTC8 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • KidGen_CilioNephronop v38.1.0
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985

Green TTC8 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM #615985

Green TTC8 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 8, MIM #615985