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Intellectual disability

Gene: KNL1

Green List (high evidence)

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

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype; microcephaly with mild - moderate ID.
Created: 21 Dec 2017, 11:12 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene name changed from CASC5 to KNL1. Associated with phenotype in OMIM, not in G2P. At least 3 variants reported, one more than three unrelated famiies
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_microcephaly . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:14 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_microcephaly; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 19 Jul 2017, 4:57 p.m.
added new-gene-name tag, new approved HGNC gene symbol is KNL1
Created: 19 Jul 2017, 4:25 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Microcephaly 4, primary, autosomal recessive 604321
OMIM
609173
Clinvar variants
Variants in KNL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to KNL1. Panel: Intellectual disability Publications for gene KNL1 was set to ['22983954', ' 26621532', ' 26626498 ']

5 Nov 2017, Gel status: 2

Changed Gene Name

GEL ()

CASC5 was changed to KNL1

5 Nov 2017, Gel status: 2

Removed Tag

GEL ()

new-gene-name was removed from CASC5. Panel: Intellectual disability

19 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

CASC5 was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

CASC5 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene