1. Genes and Genomic Entities
  2. TXNDC15

TXNDC15

thioredoxin domain containing 15
Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green TXNDC15 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Meckel syndrome 14, OMIM:619879
    Tags
    • gene-checked
    No list TXNDC15 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Literature
    • Expert list
    Phenotypes
    • Meckel syndrome
    Tags
    • curated_removed
    Green TXNDC15 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Meckel syndrome 14, OMIM:619879
    Tags
    • gene-checked
    Green TXNDC15 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 14, OMIM:619879
    Tags
    • gene-checked
    Green TXNDC15 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 14, OMIM:619879
    Tags
    • gene-checked
    Green TXNDC15 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 14, OMIM:619879
    Tags
    • gene-checked
    No list TXNDC15 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    • Expert list
    Phenotypes
    • MGS
    • Meckel-Gruber syndrome
    Tags
    • curated_removed
    Red TXNDC15 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Meckel-Gruber syndrome
    • MGS