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Fetal anomalies

Gene: KCNN4

Amber List (moderate evidence)
KCNN4 (potassium calcium-activated channel subfamily N member 4)
EnsemblGeneIds (GRCh38): ENSG00000104783
EnsemblGeneIds (GRCh37): ENSG00000104783
OMIM: 602754, Gene2Phenotype
KCNN4 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

Green on red blood cell panels. Presents with congenital haemolytic anaemia. PMID36031591 fetal demise 23 weeks autopsy NIHF (skin edema, bilateral pleuraleffusion, and macroglossia) associated with hepatomegaly but without splenomegaly.Only fetal case.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dehydrated hereditary stomatocytosis 2, OMIM:616689

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Dehydrated hereditary stomatocytosis 2, OMIM:616689
OMIM
602754
Clinvar variants
Variants in KCNN4
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Dehydrated hereditary stomatocytosis 2, OMIM:616689 for gene: KCNN4

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: KCNN4 was added gene: KCNN4 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted