| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.101 | TXNDC15 | chirag patel Marked gene: TXNDC15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.101 | TXNDC15 | chirag patel Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.101 | TXNDC15 | chirag patel Classified gene: TXNDC15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.101 | TXNDC15 | chirag patel Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.100 | TXNDC15 |
chirag patel gene: TXNDC15 was added gene: TXNDC15 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 41518077; 39679447; 38156946; 38073519; 31411728; 30851085; 27894351 Phenotypes for gene: TXNDC15 were set to Meckel syndrome 14, MIM# 619879 Review for gene: TXNDC15 was set to GREEN Added comment: PMID 41518077, PMID 38073519, PMID 38156946, PMID 30851085, PMID 31411728 and PMID 27894351 report 8 families with biallelic loss‑of‑function TXNDC15 variants causing Meckel syndrome, a perinatally lethal autosomal recessive ciliopathy characterised by occipital encephalocele, polycystic kidneys, postaxial polydactyly and omphalocele. Segregation, ultra‑rare population frequencies and functional studies in patient cells and mouse models support the association. Sources: Literature |
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