TXNDC15

thioredoxin domain containing 15
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel Gruber syndrome
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MGS, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MGS, Meckel-Gruber syndrome