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Fetal anomalies

Gene: TXNDC15

Amber List (moderate evidence)

TXNDC15 (thioredoxin domain containing 15)
EnsemblGeneIds (GRCh38): ENSG00000113621
EnsemblGeneIds (GRCh37): ENSG00000113621
TXNDC15 is in 10 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:44 p.m. | Last Modified: 1 Feb 2021, 4:44 p.m.
Panel Version: 1.551

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Comment from copied from skeletal ciliopathies panel:
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis.
Sources: Other
Sources: Literature
Created: 28 Jan 2021, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Meckel Gruber syndrome

History Filter Activity

1 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag for-review tag was added to gene: TXNDC15.

1 Feb 2021, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: TXNDC15 were set to

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: txndc15 has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: TXNDC15 was added gene: TXNDC15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome Review for gene: TXNDC15 was set to GREEN