TXNDC15

thioredoxin domain containing 15
OMIM: 617778, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TXNDC15 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 14, MIM# 619879

Green TXNDC15 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.2

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
Phenotypes
  • Meckel syndrome 14, MIM# 619879

Green TXNDC15 in Mendeliome


Version 2.588

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 14, MIM# 619879

Green TXNDC15 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.2

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert Review
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Meckel syndrome 14, MIM# 619879

    Green TXNDC15 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Meckel syndrome 14, MIM# 619879

    Green TXNDC15 in Fetal anomalies


    Version 2.81

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Meckel syndrome 14, MIM# 619879