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| Ductal plate malformation v0.51 | DGUOK | Ivone Leong Marked gene: DGUOK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.51 | DGUOK | Ivone Leong Added comment: Comment when marking as ready: DGUOK is a disease causing gene of DPM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.51 | DGUOK | Ivone Leong Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.51 | DGUOK | Ivone Leong Added comment: Comment on publications: Added another publication (PMID:26874653) provided by Bill Griffiths (Cambridge University Hospitals). The paper reported on 2 families with 3 individuals who have the same variant in the DGUOK gene. The affected patients had protal hypertension without advanced fibrosis/cirrhosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.51 | DGUOK | Ivone Leong Publications for gene: DGUOK were set to 30234759; 17073823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | DGUOK | Bill Griffiths edited their review of gene: DGUOK: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | DGUOK | Bill Griffiths reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26874653; Phenotypes: portal hypertension, varices, splenomegaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.34 | DGUOK | Ivone Leong Publications for gene: DGUOK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.33 | DGUOK | Ivone Leong Classified gene: DGUOK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.33 | DGUOK |
Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. DGUOK is a green gene on the 'Undiagnosed metabolic disorders' and 'Mitochondrial disorders' panels. Dr Bill Griffiths (Addenbrooke's Hospital, Cambridge, UK) suggested: DGUOK based on OMIM 617068 and the description and reference within that entry. In one study (30234759) showed 2 unrelated families with 3 affected members (all by consanguineous parents) have portal hypertension. The DGUOK variant is a missense mutation. No functional studies were performed. In a second study (17073823) a proband showed liver fibrosis and compound missense mutations in DGUOK (one of which was the same missense mutation found in 30234759). In vitro studies were performed using fibroblasts taken from patient, which showed that the variant caused reduced enzyme activity. |
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| Ductal plate malformation v0.33 | DGUOK | Ivone Leong Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | DGUOK |
Ivone Leong Source Expert Review Amber was added to DGUOK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ductal plate malformation v0.26 | DGUOK | Ivone Leong reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30234759, 11687800, 12210798, 25129007 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.2 | DGUOK |
Ivone Leong gene: DGUOK was added gene: DGUOK was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068) |
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