Palmoplantar keratoderma and erythrokeratodermas
Gene: KANK2
KANK2 (KN motif and ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000197256
EnsemblGeneIds (GRCh37): ENSG00000197256
OMIM: 614610, Gene2Phenotype
KANK2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000197256
EnsemblGeneIds (GRCh37): ENSG00000197256
OMIM: 614610, Gene2Phenotype
KANK2 is in 5 panels
2 reviews
Veronica Kinsler (UCL)
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- PPKWH
- Palmoplantar keratoderma and woolly hair, 616099
- OMIM
- 614610
- Clinvar variants
- Variants in KANK2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 Apr 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
23 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
23 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
5 Jan 2017, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)KANK2 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen
5 Jan 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)KANK2 was created by rfoulger