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 rating and will be promoted to Green at the next panel review.
Created: 7 Oct 2020, 2:11 p.m. | Last Modified: 7 Oct 2020, 2:11 p.m.
Panel Version: 1.36
Three unrelated families reported.
Sources: Expert list
Created: 9 Aug 2020, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Variants in this GENE are reported as part of current diagnostic practice
Gene: unc45a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: UNC45A.
gene: UNC45A was added gene: UNC45A was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45A were set to 29429573 Phenotypes for gene: UNC45A were set to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing Review for gene: UNC45A was set to GREEN gene: UNC45A was marked as current diagnostic