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Severe microcephaly

Gene: KIF14

Amber List (moderate evidence)

KIF14 (kinesin family member 14)
EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 11 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 8 unrelated families reported (PMIDs: 28892560 and 29343805) with severe primary microcephaly due to different biallelic variants in the KIF14 gene. Kif14 knockout mice also exhibit primary microcephaly.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 15 Jan 2021, 1:55 p.m. | Last Modified: 15 Jan 2021, 1:55 p.m.
Panel Version: 2.69

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 8 families reported. Microcephaly ranged from -3.6 to -11 SD.
Sources: Expert list
Created: 1 Sep 2020, 5:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 20, primary, autosomal recessive, MIM# 617914

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, OMIM:617914
  • Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Tags
for-review
OMIM
611279
Clinvar variants
Variants in KIF14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: KIF14.

15 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kif14 has been classified as Amber List (Moderate Evidence).

15 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: KIF14 was added gene: KIF14 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 28892560; 29343805 Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, MIM# 617914 Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic