DDG2P
Gene: KNL1

KNL1 (kinetochore scaffold 1)
EnsemblGeneIds (GRCh38): ENSG00000137812
EnsemblGeneIds (GRCh37): ENSG00000137812
OMIM: 609173, Gene2Phenotype
KNL1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for KNL1-related primary microcephaly are strong, biallelic_autosomal and loss of function (PMIDs: 22983954, 26621532, 26626498, 27149178, 27784895, 37937525). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03784.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:604321.0; KNL1-related primary microcephaly; MONDO:0011437

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0011437
KNL1-related primary microcephaly
OMIM:604321.0

OMIM

609173

Clinvar variants

Variants in KNL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KNL1 was added gene: KNL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KNL1 were set to 26621532; 37937525; 27149178; 26626498; 27784895; 22983954 Phenotypes for gene: KNL1 were set to MONDO:0011437; KNL1-related primary microcephaly; OMIM:604321.0

DDG2P Gene: KNL1