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| Ductal plate malformation v1.9 | PKD1 |
Ivone Leong Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1 Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343 |
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| Ductal plate malformation v1.3 | PKD1 | Ivone Leong commented on gene: PKD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.2 | PKD1 | Ivone Leong Source NHS GMS was added to PKD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.73 | PKD1 | Ivone Leong commented on gene: PKD1: There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.40 | PKD1 | Ivone Leong Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.40 | PKD1 | Ivone Leong Added comment: Comment when marking as ready: PKD1 is on the Eligibility statement | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.40 | PKD1 | Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.40 | PKD1 | Ivone Leong Publications for gene: PKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | PKD1 | Bill Griffiths edited their review of gene: PKD1: Changed publications: PMID: 3178424 PMID: 9211343; Changed phenotypes: Polycystic liver, polycystic kidney, Caroli's disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | PKD1 | Bill Griffiths reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 3178424; Phenotypes: Polycystic liver, polycystic kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | PKD1 |
Ivone Leong Source Expert Review Green was added to PKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ductal plate malformation v0.26 | PKD1 | Ivone Leong reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554072; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.25 | PKD1L1 |
Ivone Leong gene: PKD1L1 was added gene: PKD1L1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal (617205) |
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| Ductal plate malformation v0.2 | PKD1 |
Ivone Leong gene: PKD1 was added gene: PKD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) |
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