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Limb disorders

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 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Causation established. Very mild end of the radial ray spectrum from reports to date, however included.
Created: 11 May 2017, 12:31 p.m.
Sufficient evidence for causation and from literature to date presents with severe ID. Green on ID panel which is appropriate. Extremely mild end of the spectrum of radial ray defects (hypoplastic thumb / thumb nails). Rated green on this basis but borderline phenotypic fit recognised.
Created: 11 May 2017, 9:14 a.m.

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

Phenotypes
Temple-Baraitser syndrome 611816

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hypoplasia of terminal phalanges
  • Temple-Baraitser syndrome, 611816
OMIM
603305
Clinvar variants
Variants in KCNH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Sufficient evidence for causat

16 Oct 2018, Gel status: 4

Added New Source, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to KCNH1. Added phenotypes Hypoplasia of terminal phalanges; Temple-Baraitser syndrome, 611816 for gene: KCNH1

16 Oct 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: KCNH1 was added gene: KCNH1 was added to Limb disorders. Sources: Other 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-Baraitser syndrome, 611816