Cholestasis

Gene: KIF12

Amber List (moderate evidence)

KIF12 (kinesin family member 12)
EnsemblGeneIds (GRCh38): ENSG00000136883
EnsemblGeneIds (GRCh37): ENSG00000136883
OMIM: 611278, Gene2Phenotype
KIF12 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Literature
Created: 1 May 2020, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; High Gamma-Glutamyltransferase (GGT)

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
  • Cholestasis
  • High Gamma-Glutamyltransferase (GGT)
Tags
for-review
OMIM
611278
Clinvar variants
Variants in KIF12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: KIF12.

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kif12 has been classified as Amber List (Moderate Evidence).

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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