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Additional findings_Paediatric

Gene: KRT5

Green List (high evidence)

KRT5 (keratin 5)
EnsemblGeneIds (GRCh38): ENSG00000186081
EnsemblGeneIds (GRCh37): ENSG00000186081
OMIM: 148040, Gene2Phenotype
KRT5 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex
OMIM
148040
Clinvar variants
Variants in KRT5
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT5 was added gene: KRT5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex