Severe microcephaly
Gene: KNL1
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
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
Added 'new gene name' tag because CASC5 has been renamed to KNL1 in HGNC.Created: 13 Dec 2016, 11:16 a.m.
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
Source NHS GMS was added to KNL1.
CASC5 was changed to KNL1
new-gene-name was removed from CASC5. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum
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.
This gene has been classified as Green List (High Evidence).
Publications for CASC5 were set to 26626498; 26621532; 22983954
KNL1* was changed to CASC5
KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
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
KNL1* was created by rfoulger
KNL1* was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list