Severe microcephaly

Gene: KNL1

Green List (high evidence)

KNL1 (kinetochore scaffold 1)
EnsemblGeneIds (GRCh38): ENSG00000137812
EnsemblGeneIds (GRCh37): ENSG00000137812
OMIM: 609173, Gene2Phenotype
KNL1 is in 2 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Reasonable number of case reports. Expert list. Founder effect seen in some families
12 Jan 2017, 11:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 4, primary, autosomal recessive 604321

Publications

Rebecca Foulger (Genomics England curator)

Added 'new gene name' tag because CASC5 has been renamed to KNL1 in HGNC.
13 Dec 2016, 11:16 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Primary Microcephaly, Recessive
  • Microcephaly 4, primary, autosomal recessive, 604321
  • Microcephaly 4, Primary, Autosomal Recessive
OMIM
609173
Clinvar variants
Variants in KNL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

CASC5 was changed to KNL1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from CASC5. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for CASC5 were set to 26626498; 26621532; 22983954

13 Dec 2016, Gel status: 3

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KNL1* was changed to CASC5

13 Dec 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other

13 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene KNL1* was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KNL1* was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list