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Intellectual disability

Gene: KIF14

Green List (high evidence)

KIF14 (kinesin family member 14)
EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. KIF14 is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 29343805, 28892560 reported on 7 unrelated families with affected members who have moderate to severe ID and have different variants in KIF14. Therefore, there is enough evidence to promote this gene to green status.
Created: 27 Jun 2019, 2:26 p.m. | Last Modified: 27 Jun 2019, 2:26 p.m.
Panel Version: 2.900

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals from unrelated families with bi-allelic variants reported in this gene, ID is part of the phenotype.
Created: 22 Jun 2018, 11:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 20, primary, autosomal recessive

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, 617914
OMIM
611279
Clinvar variants
Variants in KIF14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kif14 has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KIF14 were set to 29343805, 28892560

27 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive to Microcephaly 20, primary, autosomal recessive, 617914

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIF14.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

KIF14 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

KIF14 was created by Zornitza Stark