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Fetal anomalies

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 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Chandler (North Thames GLH)

I don't know

Green in limb disorders panel plus ID & DDG2P. Limb disorders went green in 2023. Comment in limb disorders radial ray defects in mild end hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet. PMID: 33594261 3 patient MRI (no age provided) 1 ACC, 1 enlarged extra axial fluid spaces. Coarse facial features in 3 - 1 high arched palated, low/depressed nasal tip in 2. 1 poylhydramnios. Shortened digits and aplastic nails. PMID: 31155282 3 other cases all 2 with MRI both normal. Similar facial features. 1/3 contractures. Similar skeletal findings and hypoplastic nails. 2x patent ductus arteriousus, 1 x inguinal hernia, 1x dorso lumbar kyphosis.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Zimmermann-Laband syndrome 3, MIM#618658

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Zimmermann-Laband syndrome 3, OMIM:618658
OMIM
602983
Clinvar variants
Variants in KCNN3
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNN3 was added gene: KCNN3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282; 33594261 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658 Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments