Limb disordersGene: KCNH1
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
Temple-Baraitser syndrome 611816
Helen Brittain: Sufficient evidence for causat
Source Expert Review Green was added to KCNH1. Added phenotypes Hypoplasia of terminal phalanges; Temple-Baraitser syndrome, 611816 for gene: KCNH1
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