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  3. UNC45A
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Osteogenesis Imperfecta and Osteoporosis

Gene: UNC45A

Amber List (moderate evidence)
UNC45A (unc-45 myosin chaperone A)
EnsemblGeneIds (GRCh38): ENSG00000140553
EnsemblGeneIds (GRCh37): ENSG00000140553
OMIM: 611219, Gene2Phenotype
UNC45A is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteootohepatoenteric syndrome, MIM# 619377

Created: 10 Jun 2021, 11:28 p.m.
Last Modified: 10 Jun 2021, 11:28 p.m.
Panel version: 0.55

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Not enough evidence currently to determine bone fragility is a prominent feature of the condition.
Created: 1 Apr 2020, 10:18 a.m. | Last Modified: 1 Apr 2020, 10:18 a.m.
Panel Version: 0.4
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.
Created: 1 Apr 2020, 10:16 a.m. | Last Modified: 1 Apr 2020, 10:16 a.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis; congenital diarrhea; impaired hearing; bone fragility

Publications

Created: 1 Apr 2020, 10:16 a.m.
Last Modified: 1 Apr 2020, 10:16 a.m.
Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • cholestasis
  • congenital diarrhea
  • impaired hearing
  • bone fragility
OMIM
611219
Clinvar variants
Variants in UNC45A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC45A were changed from cholestasis; congenital diarrhea; impaired hearing; bone fragility to Osteootohepatoenteric syndrome, MIM# 619377; cholestasis; congenital diarrhea; impaired hearing; bone fragility

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jul 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: UNC45A were changed from to cholestasis; congenital diarrhea; impaired hearing; bone fragility

13 Jul 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: UNC45A were set to

13 Jul 2020, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UNC45A was added gene: UNC45A was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UNC45A was set to Unknown