Submission Details


Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
KIF12 was first reported in relation to autosomal recessive cholestasis in 2019 (Maddirevula S, et al., 2019, PMID: 30250217). At least 5 unique variants (e.g. missense and nonsense) have been reported in humans. Variants in this gene have been reported in at least 9 probands in 4 publications (PMID: 30250217; PMID: 30976738; PMID: 33456446; PMID: 31130284). Mice model of Kif12 modulates biliary phenotype severity, including cholangitis, and cystic kidney disease (PMID: 15728779). Kif12 expression in the liver tissues (PMID: 15728779) (No convincing contradictory evidence has emerged. Two publications with convincing evidence and no convincing contradictory evidence classified KIF12 as definitive. Gene is scored according to ClinGen classification.
PubMed IDs:
30250217 30250217 30976738 33456446 31130284
Assertion Criteria:
Submitter Submitted Date:

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