Palmoplantar keratoderma and erythrokeratodermas
Gene: SERPINB7
Compound heterozygous and recessive. Mainly reported in Japanese and Han Chinese.Created: 14 Mar 2017, 7:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
palmoplantar keratoderma, recurrent tinea
Publications
Comment on list classification: Updated rating from Amber to Green: 1 green review plus sufficient unrelated cases (>3) in Japanese and Chinese-Han populations to support causation of PPK phenotype.Created: 20 Mar 2017, 12:53 p.m.
Comment on list classification: Updated rating from Red to Amber ready for Expert review. >3 unrelated cases supporting a link between SERPINB7 and PPKN.Created: 10 Jan 2017, 3:28 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Jan 2017, 5:20 p.m.
In affected members of 10 Japanese families with PPKN, Mizuno et al. (2014, PMID:24773080) identified homozygosity or compound heterozygosity for SERPINB7 mutations (see, e.g., 603357.0001-603357.0003). All of the patients carried R266X on at least 1 allele.Created: 9 Jan 2017, 5:18 p.m.
In 7 sporadic Chinese patients with PPKN, Yin et al. (2014, PMID:24514002) identified homozygosity or compound heterozygosity for mutations in the SERPINB7 gene; the recurrent R266X mutation was present in homozygosity in 4 patients and in compound heterozygosity with another mutation in 2; these 6 patients shared a common mutant haplotype, indicating that R266X likely represents a founder mutation rather than a mutation hotspot.Created: 9 Jan 2017, 5:17 p.m.
In 13 unrelated Japanese patients with the Nagashima type of palmoplantar keratoderma (PPKN; 615598), Kubo et al. (2013, PMID:24207119) identified homozygosity or compound heterozygosity for 3 different truncating mutations in the SERPINB7 gene, including R266X.Created: 9 Jan 2017, 5:17 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).
Phenotypes for SERPINB7 were set to Palmoplantar keratoderma, Nagashima type, 615598; palmoplantar keratoderma, recurrent tinea
Publications for SERPINB7 were set to 28211129; 27666198; 26926003; 26763456; 25940237; 25788444; 25029323; 24773080; 24514002; 24207119
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for SERPINB7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
SERPINB7 was created by ellenmcdonagh
SERPINB7 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen