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Fetal anomalies

Gene: SNUPN

Amber List (moderate evidence)
SNUPN (snurportin 1)
EnsemblGeneIds (GRCh38): ENSG00000169371
EnsemblGeneIds (GRCh37): ENSG00000169371
OMIM: 607902, Gene2Phenotype
SNUPN is in 3 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

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Not on any PanelApp panels. Nashabat et al, 2024: 2x reduced fetal movements (sibs) from 18 cases. Rest postnatal onset of features only. atypical muscular dystrophy and neurological defects. all patients displayed at least one extramuscular clinical manifestation with a high prevalence of central nervous system (78%), ocular (33%), skeletal (75%), respiratory system (61%) involvement. Incl seven with either cerebellar atrophy or thin corpus callosum (visible prenatally). Skeletal: joint contractures (78%) and vertebral column anomalies (75%) including scoliosis, rigid spine, and lordosis, less likely observable prenatally. Iruzubieta et al: no reported prenatal phenotypes. Postnatal phenotype characterized by proximal weakness starting in childhood, restrictive respiratory dysfunction and prominent contractures.
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
Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM#620793

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 Amber
  • NHS GMS
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
OMIM
607902
Clinvar variants
Variants in SNUPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SNUPN was added gene: SNUPN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38413582; 38366623 Phenotypes for gene: SNUPN were set to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793