| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intestinal failure or congenital diarrhoea v1.50 | PCSK1 | Sarah Leigh Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, OMIM:600955 to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.49 | PCSK1 | Sarah Leigh Publications for gene: PCSK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | PCSK1 | Eleanor Williams commented on gene: PCSK1: Two patients reported in PMID: 9207799 and PMID: 14617756 are reported to have PC1 deficiency with a obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones phenotype. The second patient (PMID: 14617756) had severe refractory neonatal diarrhea, malabsorptive in type and re-investigation of the first patient showed marked small-intestinal absorptive dysfunction. Both patients were found to have compound heterozygous protein altering variants in PC1 (now known as PCSK1). PMID: 17595246 - report a 3rd individual who was homozygous for a novel missense mutation Ser307Leu in PCSK1 who presented with obesity and persistent diarrhea. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.48 | PCSK1 | Eleanor Williams commented on gene: PCSK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.47 | PCSK1 |
Ivone Leong gene: PCSK1 was added gene: PCSK1 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, OMIM:600955 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||