Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next


Gene: UNC50

Red List (low evidence)

UNC50 (unc-50 inner nuclear membrane RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000115446
EnsemblGeneIds (GRCh37): ENSG00000115446
UNC50 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Red awaiting further evidence. Only a single variant described in 2 individuals (PMIDs: 29016857; 33820833). Additional cases with different variants or strong functional support required to validate pathogenicity.
Created: 14 Apr 2021, 2:59 p.m. | Last Modified: 14 Apr 2021, 2:59 p.m.
Panel Version: 3.90
UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype.

- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.

- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity.
Sources: Literature
Created: 14 Apr 2021, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Arthrogryposis multiplex congenita



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Literature
  • Arthrogryposis multiplex congenita
Clinvar variants
Variants in UNC50
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: unc50 has been classified as Red List (Low Evidence).

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: unc50 has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: UNC50 was added gene: UNC50 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC50 were set to 29016857; 33820833 Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita Review for gene: UNC50 was set to AMBER