Ichthyosis and erythrokeratodermaGene: KRT14
Comment when marking as ready: Discussed with Helen Brittain who agrees with Green rating.
Created: 3 Apr 2017, 9:26 a.m.
Comment on list classification: Updated rating from Amber to Green following discussion with Helen Brittain: PPK is a feature of Naegeli-Franceschetti-Jadassohn syndrome and EB simplex. There are sufficient case reports for inclusion on the panel.
Created: 3 Apr 2017, 9:25 a.m.
Comment on list classification: Updated rating from Red to Amber, awaiting further review: 3 case of KART14 variants causing NFJS, and PPK is listed as a phenotype of NFJS.
Created: 23 Mar 2017, 11:11 a.m.
PMID:16960809 (Lugassy et al. 2006) report 2 heterozygous KRT14 variants in 4 families with NFJS, including 3 UK families where the GLN7TER variant is likely to be a founder mutation.
Created: 23 Mar 2017, 11:09 a.m.
Naegeli-Franceschetti-Jadassohn syndrome (NFJS; OMIM:161000) and dermatopathia pigmentosa reticularis (DPR; OMIM:125595) are 2 closely related autosomal dominant syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.
Created: 9 Jan 2017, 4:29 p.m.
gene: KRT14 was added gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT14 were set to 9804355 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)