| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb disorders v2.78 | TXNDC15 | Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.135 | TXNDC15 | Eleanor Williams Classified gene: TXNDC15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.135 | TXNDC15 |
Eleanor Williams Added comment: Comment on list classification: Adding this gene to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only. 3 cases reported with polydactyly as part of the phenotype. |
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| Limb disorders v1.135 | TXNDC15 | Eleanor Williams Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.134 | TXNDC15 |
Eleanor Williams gene: TXNDC15 was added gene: TXNDC15 was added to Limb disorders. Sources: Other Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 27894351 Phenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: 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 |
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