Severe microcephaly
Gene: KNL1EnsemblGeneIds (GRCh38): ENSG00000137812
EnsemblGeneIds (GRCh37): ENSG00000137812
OMIM: 609173, Gene2Phenotype
KNL1 is in 4 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Reasonable number of case reports. Expert list. Founder effect seen in some familiesCreated: 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.Created: 13 Dec 2016, 11:16 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Microcephaly 4, primary, autosomal recessive, OMIM:604321
- Microcephaly 4, primary, autosomal recessive, MONDO:0011437
- OMIM
- 609173
- Clinvar variants
- Variants in KNL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KNL1 were changed from MCPH; primary microcephaly; Primary Microcephaly, Recessive; Microcephaly 4, primary, autosomal recessive, 604321; Microcephaly 4, Primary, Autosomal Recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KNL1.
Changed Gene Name
GEL ()CASC5 was changed to KNL1
Removed Tag
GEL ()new-gene-name was removed from CASC5. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CASC5 were set to 26626498; 26621532; 22983954
Changed Gene Name
Ellen McDonagh (Genomics England Curator)KNL1* was changed to CASC5
Added New Source
Rebecca Foulger (Genomics England curator)KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
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
Created
Rebecca Foulger (Genomics England curator)KNL1* was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list