Radial dysplasia

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
  • Temple-Baraitser syndrome, 611816
  • Hypoplasia of terminal phalanges
OMIM
603305
Clinvar variants
Variants in KCNH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for KCNH1 were set to Temple-Baraitser syndrome, 611816; Hypoplasia of terminal phalanges

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for KCNH1 were set to 25420144

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KCNH1 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KCNH1 was added to Radial dysplasiapanel. Sources: Other