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  3. KIF14
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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 9 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
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

Created: 22 Jun 2018, 11:41 a.m.

Panel version: 2.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, OMIM:617914
  • Microcephaly 20, primary, autosomal recessive, MONDO:0054761
OMIM
611279
Clinvar variants
Variants in KIF14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914 to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761

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