Radial dysplasia
Gene: KCNH1
Hypoplastic thumb nails only.Created: 23 Jul 2020, 8:14 a.m. | Last Modified: 23 Jul 2020, 8:14 a.m.
Panel Version: 1.10
Phenotypes
Temple-Baraitser syndrome, MIM# 611816
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNH1 were set to Temple-Baraitser syndrome, 611816; Hypoplasia of terminal phalanges
Publications for KCNH1 were set to 25420144
This gene has been classified as Green List (High Evidence).
KCNH1 was created by rfoulger
KCNH1 was added to Radial dysplasiapanel. Sources: Other