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Cholestasis
Gene: KIF12

KIF12 (kinesin family member 12)
EnsemblGeneIds (GRCh38): ENSG00000136883
EnsemblGeneIds (GRCh37): ENSG00000136883
OMIM: 611278, Gene2Phenotype
KIF12 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Expert list
Created: 22 Apr 2020, 8:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 8, MIM# 619662

Publications

Created: 22 Apr 2020, 8:18 a.m.

Panel version: 0.212

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Cholestasis, progressive familial intrahepatic, 8, MIM# 619662

OMIM

Clinvar variants

Variants in KIF12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF12 were changed from Cholestasis, progressive familial intrahepatic, 8 619662 to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8 619662

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif12 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif12 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF12 was added gene: KIF12 was added to Cholestasis. Sources: Expert list 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