Severe microcephaly
Gene: KIF14The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
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
At least 8 families reported. Microcephaly ranged from -3.6 to -11 SD.
Sources: Expert listCreated: 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
Tag for-review was removed from gene: KIF14.
Source Expert Review Green was added to KIF14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: KIF14.
Gene: kif14 has been classified as Amber List (Moderate Evidence).
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
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