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

Fetal anomalies

Gene: UNC45A

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

3 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

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)

I don't know

Biallelic variants associated with osteootohepatoenteric syndrome - bone fragility, hearing loss, cholestasis, and congenital diarrhea. Generally presents in the neonatal period; reviewed as red in 2025. One new report of compound heterozygous variants in an affected infant where late-pregnancy ultrasound showed polyhydramnios and diffuse intestinal dilation (PMID: 41081434).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25
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; Osteootohepatoenteric syndrome, OMIM:619377

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 8.25

Details

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

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Amber was added to UNC45A. Added phenotypes Osteootohepatoenteric syndrome, OMIM:619377 for gene: UNC45A Publications for gene: UNC45A were updated from 29429573 to 41081434; 29429573 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

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