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  2. Congenital Diarrhoea
  3. UNC45A
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Congenital Diarrhoea

Gene: UNC45A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 9 Aug 2020, 11:19 a.m. | Last Modified: 9 Aug 2020, 11:19 a.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing

Publications

Created: 9 Aug 2020, 11:19 a.m.
Last Modified: 9 Aug 2020, 11:19 a.m.
Panel version: 1.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • Cholestasis
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
OMIM
611219
Clinvar variants
Variants in UNC45A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing

9 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc45a has been classified as Green List (High Evidence).

9 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing

9 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC45A were set to

9 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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