Palmoplantar keratoderma and erythrokeratodermas
Gene: 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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for KRT14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome, 161000; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR); palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760
Phenotypes for gene KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome, 161000; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR); palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595
KRT14 was created by rfoulger
KRT14 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other