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Ductal plate malformation v0.73 | KCNN3 | Ivone Leong Tag watchlist tag was added to gene: KCNN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Marked gene: KCNN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Classified gene: KCNN3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Added comment: Comment on list classification: Demoted from green to red. KCNN3 does not have an OMIM ID and has no associated phenotypes on Gene2Phenotype. There is only one paper (PMID: 26658685) describing one family with four affected individuals presenting with idiopathic non-cirrhotic portal hypertension who have a missense variant in KCNN3. There are no other reports or reported variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.72 | KCNN3 | Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.71 | KCNN3 | Ivone Leong All sources for gene: KCNN3 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.70 | KCNN3 | Ivone Leong Added comment: Comment on mode of inheritance: The publication (PMID: 26658685) describes it as an autosomal dominant variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.70 | KCNN3 | Ivone Leong Mode of inheritance for gene: KCNN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.69 | KCNN3 | Ivone Leong Phenotypes for gene: KCNN3 were changed from portal hypertension; varices; splenomegaly to No OMIM number; portal hypertension; varices; splenomegaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.68 | KCNN3 | Ivone Leong Publications for gene: KCNN3 were set to 26658685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.67 | KCNN3 | Ivone Leong Publications for gene: KCNN3 were set to PMID: 26658685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | KCNN3 | Bill Griffiths edited their review of gene: KCNN3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ductal plate malformation v0.35 | KCNN3 |
Bill Griffiths gene: KCNN3 was added gene: KCNN3 was added to Polycystic liver disease. Sources: Literature Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to PMID: 26658685 Phenotypes for gene: KCNN3 were set to portal hypertension; varices; splenomegaly Penetrance for gene: KCNN3 were set to unknown Review for gene: KCNN3 was set to GREEN Added comment: Sources: Literature |