Activity
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11 actions
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| Fetal anomalies v4.195 | TXNDC15 | Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel syndrome 14, OMIM:619879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.860 | TXNDC15 | Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | TXNDC15 | Arina Puzriakova Tag for-review was removed from gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | TXNDC15 | Arina Puzriakova commented on gene: TXNDC15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | TXNDC15 |
Arina Puzriakova Source Expert Review Green was added to TXNDC15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.552 | TXNDC15 | Catherine Snow Tag for-review tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.552 | TXNDC15 | Catherine Snow Publications for gene: TXNDC15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.551 | TXNDC15 | Catherine Snow Classified gene: TXNDC15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.551 | TXNDC15 | Catherine Snow Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.551 | TXNDC15 | Catherine Snow Gene: txndc15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.185 | TXNDC15 |
Rhiannon Mellis 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 Added comment: 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 |
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