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Intellectual disability syndromic and non-syndromic

Gene: KCNN3

Green List (high 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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in three unrelated individuals
Sources: Literature
Created: 17 Jan 2020, 5:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Zimmermann-Laband syndrome 3; OMIM# 618658

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • 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: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome 3; OMIM# 618658 to Zimmermann-Laband syndrome 3 MIM#618658

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kcnn3 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kcnn3 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: KCNN3 was added gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. 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 PMID: 31155282 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658 Review for gene: KCNN3 was set to GREEN gene: KCNN3 was marked as current diagnostic