1. Panels
  2. DDG2P
  3. KLHL20
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: KLHL20

Green List (high evidence)
KLHL20 (kelch like family member 20)
EnsemblGeneIds (GRCh38): ENSG00000076321
EnsemblGeneIds (GRCh37): ENSG00000076321
OMIM: 617679, Gene2Phenotype
KLHL20 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL20-related developmental disorder with seizures are moderate, monoallelic_autosomal and undetermined (PMID:36214804). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03488.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease KLHL20-related developmental disorder with seizures is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36214804).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
KLHL20-related developmental disorder with seizures; MONDO:0100038

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KLHL20-related developmental disorder with seizures
Tags
de novo gene-checked
OMIM
617679
Clinvar variants
Variants in KLHL20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: KLHL20 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: KLHL20.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: KLHL20.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KLHL20 was added gene: KLHL20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLHL20 were set to 36214804 Phenotypes for gene: KLHL20 were set to KLHL20-related developmental disorder with seizures Mode of pathogenicity for gene: KLHL20 was set to Other