Hypertrichosis syndromes

Gene: KCNN3

Amber List (moderate evidence)

KCNN3 (potassium calcium-activated channel subfamily N member 3)
EnsemblGeneIds (GRCh38): ENSG00000143603
EnsemblGeneIds (GRCh37): ENSG00000143603
OMIM: 602983, Gene2Phenotype
KCNN3 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 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

11 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnn3 has been classified as Amber List (Moderate Evidence).

11 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kcnn3 has been classified as Red List (Low Evidence).

11 Jan 2024, Gel status: 1

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