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| Cholestasis v1.105 | PKHD1 | Ivone Leong Tag for-review was removed from gene: PKHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | PKHD1 | Ivone Leong commented on gene: PKHD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | PKHD1 |
Ivone Leong Source Expert Review Green was added to PKHD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.72 | PKHD1 | Ivone Leong Classified gene: PKHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.72 | PKHD1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is Green on the Neonatal cholestasis panel (v1.13). There is enough evidence to support a gene-disease association; however, this gene has been given an Amber rating and a "for-review" tag for consideration of promoting to Green status at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.72 | PKHD1 | Ivone Leong Gene: pkhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.71 | PKHD1 | Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, 263200 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200; MONDO:0044327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.70 | PKHD1 | Ivone Leong Tag for-review tag was added to gene: PKHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.38 | PKHD1 | Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, 263200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | PKHD1 |
Zornitza Stark gene: PKHD1 was added gene: PKHD1 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 30366773; 25771912; 8616994 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Review for gene: PKHD1 was set to GREEN gene: PKHD1 was marked as current diagnostic Added comment: Periportal fibrosis is a key feature, cholestasis reported. Sources: Expert list |
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