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DDG2P

Gene: KCNH1

Green List (high evidence)

KCNH1 (potassium voltage-gated channel subfamily H member 1)
EnsemblGeneIds (GRCh38): ENSG00000143473
EnsemblGeneIds (GRCh37): ENSG00000143473
OMIM: 603305, Gene2Phenotype
KCNH1 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TEMPLE BARRAISTER SYNDROME, OMIM:611816 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25420144).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
TEMPLE BARRAISTER SYNDROME, OMIM:611816

Publications

Mode of pathogenicity
Other

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: activating
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • TEMPLE BARRAISTER SYNDROME 611816
OMIM
603305
Clinvar variants
Variants in KCNH1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to KCNH1. Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments