1. Panels
  2. Fetal anomalies
  3. UNC45A
Genes in panel
Prev Next

Fetal anomalies

Gene: UNC45A

Red List (low evidence)
UNC45A (unc-45 myosin chaperone A)
EnsemblGeneIds (GRCh38): ENSG00000140553
EnsemblGeneIds (GRCh37): ENSG00000140553
OMIM: 611219, Gene2Phenotype
UNC45A is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

Green on skeletal dysplasia panel. Postnatal phenotype: variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea; some patients also display mild developmental delay and intellectual disability. Presents neonatally with cholestasis and diarrhea (36587802,36699472). No clear evidence of a prenatal phenotype. Hip dysplasia at birth in one patient (PMID: 29429573). 5'UTR variants associated with Cholestasis-lymphedema syndrome; lymphedema presents in childhood (OMIM 214900, PMID: 37328071).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteootohepatoenteric syndrome, MIM#619377

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Osteootohepatoenteric syndrome, OMIM:619377
OMIM
611219
Clinvar variants
Variants in UNC45A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UNC45A was added gene: UNC45A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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 Osteootohepatoenteric syndrome, OMIM:619377