Ductal plate malformation

Gene: KCNN3

Red List (low evidence)

KCNN3 (potassium calcium-activated channel subfamily N member 3)
EnsemblGeneIds (GRCh38): ENSG00000143603
EnsemblGeneIds (GRCh37): ENSG00000143603
OMIM: 602983, Gene2Phenotype
KCNN3 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.
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.

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Sources: Literature
Created: 25 Nov 2018, 9:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
portal hypertension; varices; splenomegaly

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM number
  • portal hypertension
  • varices
  • splenomegaly
Tags
watchlist
OMIM
602983
Clinvar variants
Variants in KCNN3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Bill Griffiths: Sources: Literature

30 Nov 2018, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: KCNN3.

27 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnn3 has been classified as Red List (Low Evidence).

27 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnn3 has been classified as Red List (Low Evidence).

27 Nov 2018, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: KCNN3 were removed

27 Nov 2018, Gel status: 0

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: KCNN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Nov 2018, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KCNN3 were changed from portal hypertension; varices; splenomegaly to No OMIM number; portal hypertension; varices; splenomegaly

27 Nov 2018, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCNN3 were set to 26658685

27 Nov 2018, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KCNN3 were set to PMID: 26658685

25 Nov 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Bill Griffiths (Cambridge University Hospitals)

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