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Intellectual disability

Gene: KIF5A

Green List (high evidence)

KIF5A (kinesin family member 5A)
EnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 9 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Gene associated with multiple phenotypes, however, individuals reported with intractable neonatal myoclonus (MIM617235) have a severe neurological phenotype, including developmental arrest.
Created: 19 Jun 2018, 10:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myoclonus, intractable, neonatal (MIM617235)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Should be grey - no literature evidence to suggest a link between variants in this gene and Intellectual Disability of Developmental Delay
Created: 13 Dec 2017, 10:16 p.m.

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_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:07 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; 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, 12:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Sep 2018, 10:22 a.m.
Comment on phenotypes: removed Spastic paraplegia 10, autosomal dominant, 604187, this is not a relevant phenotype on this panel. Added phenotype recommended by external reviewer and in OMIM, variants in KIF5A can cause intractable neonatal myoclonus.
Created: 13 Sep 2018, 10:20 a.m.
Comment on list classification: Changed from Red to green, enough evidence to support ID phenotype
Created: 13 Sep 2018, 10:10 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:11 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Myoclonus, intractable, neonatal, 617235
  • intellectual disability
OMIM
602821
Clinvar variants
Variants in KIF5A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIF5A.

13 Sep 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KIF5A were set to

13 Sep 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant, 604187 to Myoclonus, intractable, neonatal, 617235; intellectual disability

13 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kif5a has been classified as Green List (High Evidence).

13 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kif5a has been classified as Amber List (Moderate Evidence).

12 Mar 2018, Gel status: 1

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.

5 Jan 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to KIF5A. Panel: Intellectual disability

20 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

Added New Source

BRIDGE consortium (NIHRBR-RD)

KIF5A was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

KIF5A was created by BRIDGE