Cholestasis

Gene: UNC45A

Amber List (moderate evidence)

UNC45A (unc-45 myosin chaperone A)
EnsemblGeneIds (GRCh38): ENSG00000140553
EnsemblGeneIds (GRCh37): ENSG00000140553
OMIM: 611219, Gene2Phenotype
UNC45A is in 3 panels

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 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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 9 Aug 2020, 11:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; Diarrhoea; Bone fragility; Impaired hearing

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
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
Tags
for-review
OMIM
611219
Clinvar variants
Variants in UNC45A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: unc45a has been classified as Amber List (Moderate Evidence).

7 Oct 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: UNC45A.

9 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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