Ichthyosis
Gene: KLK11EnsemblGeneIds (GRCh38): ENSG00000167757
EnsemblGeneIds (GRCh37): ENSG00000167757
OMIM: 604434, Gene2Phenotype
KLK11 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: LiteratureCreated: 15 Sep 2023, 12:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis with erythrokeratoderma, MIM# 620507
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ichthyosis with erythrokeratoderma, MIM# 620507
- OMIM
- 604434
- Clinvar variants
- Variants in KLK11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: klk11 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: klk11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KLK11 was added gene: KLK11 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLK11 were set to 36689511; 37212630 Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507 Review for gene: KLK11 was set to GREEN