TXNDC15

thioredoxin domain containing 15
OMIM: 617778, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TXNDC15 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green TXNDC15 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green TXNDC15 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review
  • Expert Review Green
Phenotypes
  • Meckel syndrome 14, MIM# 619879

Green TXNDC15 in Fetal anomalies


Version 2.0

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