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  3. KLHL20
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Fetal anomalies

Gene: KLHL20

Red List (low evidence)
KLHL20 (kelch like family member 20)
EnsemblGeneIds (GRCh38): ENSG00000076321
EnsemblGeneIds (GRCh37): ENSG00000076321
OMIM: 617679, Gene2Phenotype
KLHL20 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Not associated with structural anomalies
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709; Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709
  • Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390
OMIM
617679
Clinvar variants
Variants in KLHL20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: KLHL20 was added gene: KLHL20 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL20 were set to 36214804; 38513146 Phenotypes for gene: KLHL20 were set to neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MONDO:0980709; Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390