Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber status and will be promoted to Green at the next review.
Created: 7 Oct 2020, 1:45 p.m. | Last Modified: 7 Oct 2020, 1:45 p.m.
Panel Version: 1.35
Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Created: 1 May 2020, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cholestasis; High Gamma-Glutamyltransferase (GGT)
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review tag was added to gene: KIF12.
Gene: kif12 has been classified as Amber List (Moderate Evidence).
gene: KIF12 was added gene: KIF12 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF12 were set to 30250217; 30976738 Phenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT) Review for gene: KIF12 was set to GREEN gene: KIF12 was marked as current diagnostic