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  3. UNC80
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Fetal anomalies

Gene: UNC80

Amber List (moderate evidence)
UNC80 (unc-80 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 5 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

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

Green List (high evidence)

Alshabaniet al, 2025: 3 new cases and review of literature. New cases didn't have obvious prenatal phenotype. Report on 31 cases total. 40% of the patients had documented postnatal brain abnormalities. None with obvious prenatal phenotype described. Benvenuto et al, 2025: 2 Italian sibs both presenting with neonatal hypotonia, no obvious prenatal phenotype. Parra-Daz et al 2025: a/w full paper. From abstract: doesn't seem likely there will be a prenatal phenotype. NO Functional studies. Decided on green due to thin CC and mild ventricular enlargement reported in 3 patients
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777; Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777
Tags
Q3_26_promote_green
OMIM
612636
Clinvar variants
Variants in UNC80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: UNC80.

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

Source Expert Review Amber was added to UNC80. Source NHS GMS was added to UNC80. Added phenotypes hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777; Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 for gene: UNC80 Publications for gene: UNC80 were updated from to 40801661; 41458659; 40048676 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to UNC80. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: UNC80 was added gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability