TTC8

tetratricopeptide repeat domain 8
OMIM: 608132, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green TTC8 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

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

    Green TTC8 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

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

    Green TTC8 in Mendeliome


    Version 1.1891

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

    Green TTC8 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

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

    Green TTC8 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

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

    Green TTC8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bardet-Biedl syndrome 8, MIM# 615985

    Green TTC8 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

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

    Red TTC8 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bardet-Biedl syndrome 8, 615985

    Green TTC8 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.147

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 51, 613464
    • Bardet-Biedl syndrome 8, 209900

    Green TTC8 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Green TTC8 in Fetal anomalies


    Version 1.255

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

    Green TTC8 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.10

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

    Green TTC8 in Prepair 1000+


    Level 2: Screening
    Version 1.9

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

    Green TTC8 in Prepair 500+


    Level 2: Screening
    Version 1.1

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