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Mendeliome

Gene: KANK2

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nephrotic syndrome: three unrelated families reported, animal model. PPK: two consanguineous families, same homozygous missense, likely founder variant, so evidence for gene-disease association with this phenotype is limited.
Created: 12 Aug 2020, 8:43 a.m. | Last Modified: 12 Aug 2020, 8:43 a.m.
Panel Version: 0.3763

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma and woolly hair (MIM#616099)
  • Nephrotic syndrome, type 16, MIM#617783
OMIM
614610
Clinvar variants
Variants in KANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank2 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KANK2 were changed from to Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783

12 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KANK2 were set to

12 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KANK2 was added gene: KANK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KANK2 was set to Unknown