Ductal plate malformation
Gene: KCNN3Comment 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.Created: 27 Nov 2018, 10:46 a.m.
Comment on mode of inheritance: The publication (PMID: 26658685) describes it as an autosomal dominant variant.Created: 27 Nov 2018, 10:34 a.m.
Sources: LiteratureCreated: 25 Nov 2018, 9:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
portal hypertension; varices; splenomegaly
Publications
Bill Griffiths: Sources: Literature
Tag watchlist tag was added to gene: KCNN3.
Gene: kcnn3 has been classified as Red List (Low Evidence).
Gene: kcnn3 has been classified as Red List (Low Evidence).
All sources for gene: KCNN3 were removed
Mode of inheritance for gene: KCNN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNN3 were changed from portal hypertension; varices; splenomegaly to No OMIM number; portal hypertension; varices; splenomegaly
Publications for gene: KCNN3 were set to 26658685
Publications for gene: KCNN3 were set to PMID: 26658685
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