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Intestinal failure or congenital diarrhoea v1.48 | EPCAM | Eleanor Williams commented on gene: EPCAM: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v1.48 | EPCAM | Eleanor Williams commented on gene: EPCAM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v1.14 | EPCAM | Ivone Leong Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v0.12 | EPCAM | Ivone Leong Marked gene: EPCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v0.12 | EPCAM | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v0.12 | EPCAM | Ivone Leong Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v0.10 | EPCAM |
Ivone Leong Source Other was added to EPCAM. Mode of inheritance for gene EPCAM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Diarrhea 5, with tufting enteropathy, congenital 613217 for gene: EPCAM Publications for gene EPCAM were changed from to 18572020; 21315192; 27302973 |
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Intestinal failure or congenital diarrhoea v0.4 | EPCAM |
Ivone Leong Source Expert Review Green was added to EPCAM. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Intestinal failure or congenital diarrhoea v0.3 | EPCAM | Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intestinal failure or congenital diarrhoea v0.2 | EPCAM |
Ivone Leong gene: EPCAM was added gene: EPCAM was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to |