Hypertrichosis syndromes
Gene: KCNN3EnsemblGeneIds (GRCh38): ENSG00000143603
EnsemblGeneIds (GRCh37): ENSG00000143603
OMIM: 602983, Gene2Phenotype
KCNN3 is in 4 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 34907639 - literature review of previous ZLS patients, describes hypertrichosis as mild/moderate on trunk and limbs (3/7), or synophrys (4/7) in all patients
Sources: LiteratureCreated: 11 Jan 2024, 11:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Zimmermann-Laband syndrome 3 MIM#618658
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Zimmermann-Laband syndrome 3 MIM#618658
- OMIM
- 602983
- Clinvar variants
- Variants in KCNN3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: kcnn3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: KCNN3 was added gene: KCNN3 was added to Hypertrichosis syndromes. Sources: Literature Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN3 were set to 34907639 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3 MIM#618658 Review for gene: KCNN3 was set to AMBER