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  3. KANK2
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KANK2

Red List (low evidence)
KANK2 (KN motif and ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000197256
EnsemblGeneIds (GRCh37): ENSG00000197256
OMIM: 614610, Gene2Phenotype
KANK2 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*caution: disease association doesnt have ? in OMIM
*no additional reports in pubmed
Sources: Literature
Created: 12 Aug 2020, 6:21 a.m. | Last Modified: 12 Aug 2020, 6:23 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar keratoderma and woolly hair (MIM#616099)

Publications

Created: 12 Aug 2020, 6:21 a.m.
Last Modified: 12 Aug 2020, 6:23 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Palmoplantar keratoderma and woolly hair (MIM#616099)
Tags
founder
OMIM
614610
Clinvar variants
Variants in KANK2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank2 has been classified as Red List (Low Evidence).

12 Aug 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: KANK2.

12 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank2 has been classified as Red List (Low Evidence).

12 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: KANK2 was added gene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature 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 Palmoplantar keratoderma and woolly hair (MIM#616099) Penetrance for gene: KANK2 were set to unknown Review for gene: KANK2 was set to RED