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  3. KRT17
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Oligodontia

Gene: KRT17

Green List (high evidence)
KRT17 (keratin 17)
EnsemblGeneIds (GRCh38): ENSG00000128422
EnsemblGeneIds (GRCh37): ENSG00000128422
OMIM: 148069, Gene2Phenotype
KRT17 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma. Steatocystoma multiplex is an allelic disorder.
Created: 17 Aug 2020, 3:16 a.m. | Last Modified: 17 Aug 2020, 3:17 a.m.
Panel Version: 0.3817

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pachyonychia congenita 2, MIM#167210; Steatocystoma multiplex, MIM# 184500

Publications

Created: 17 Aug 2020, 3:16 a.m.
Last Modified: 17 Aug 2020, 3:17 a.m.
Panel version: Imported from Mendeliome panel version 0.3817

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
148069
Clinvar variants
Variants in KRT17
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT17 was added gene: KRT17 was added to Oligodontia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT17 was set to Unknown