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Osteogenesis imperfecta

Gene: UNC45A

No list

UNC45A (unc-45 myosin chaperone A)
EnsemblGeneIds (GRCh38): ENSG00000140553
EnsemblGeneIds (GRCh37): ENSG00000140553
OMIM: 611219, Gene2Phenotype
UNC45A is in 2 panels

2 reviews

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

In addition to the three families reported by Esteve et al 2018, we are aware of two additional patients with biallelic UNC45A variants. Only one had bone fragility/osteopenia, but both presented with cholestasis and diarrhoea (in one case this was congenital whereas in the other it developed early in life).
Created: 19 Feb 2021, 6:07 p.m. | Last Modified: 19 Feb 2021, 6:07 p.m.
Panel Version: 2.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis; diarrhea; bone fragility

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Australian Genomics)

I don't know

Bone fragility is present in 3 cases from two families and is not present in another case with biallelic variants. In vitro functional assays suggest loss-of-function mechanism of disease. In vivo zebrafish assays demonstrate defects in gut development and bone fragility doesn't appear to be assessed. Emerging gene-disease association, uncertain if bone fragility is a consistent/prominent feature of the phenotype yet.
Sources: Expert list
Created: 27 Jul 2020, 12:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis; congenital diarrhea; impaired hearing; bone fragility

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • cholestasis
  • congenital diarrhea
  • impaired hearing
  • bone fragility
OMIM
611219
Clinvar variants
Variants in UNC45A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 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 Osteogenesis imperfecta. 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; congenital diarrhea; impaired hearing; bone fragility Review for gene: UNC45A was set to AMBER