Ichthyosis and erythrokeratodermaGene: KANK2
Comment when marking as ready: Insufficient evidence to support causation.
Created: 23 Mar 2017, 11:25 a.m.
Comment on list classification: Kept rating as Red: 1 Amber review. Only 2 unrelated cases reported so far.
Created: 23 Mar 2017, 10:57 a.m.
Only 1 variant reported: In 2 consanguineous Arab families with palmoplantar keratoderma and woolly hair, originally reported by Djabali et al. (PMID:11874502, 2002), Ramot et al. (PMID:24671081, 2014) performed exome sequencing and identified homozygosity for a missense mutation in the KANK2 gene: c.2009C-T transition resulting in an ala670-to-val (A670V) substitution. The 6 unaffected parents were all heterozygous for the mutation.
Created: 10 Jan 2017, 4:29 p.m.
gene: KANK2 was added gene: KANK2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK2 were set to 24671081 Phenotypes for gene: KANK2 were set to PPKWH; Palmoplantar keratoderma and woolly hair, 616099