DDG2P
Gene: SNUPN

SNUPN (snurportin 1)
EnsemblGeneIds (GRCh38): ENSG00000169371
EnsemblGeneIds (GRCh37): ENSG00000169371
OMIM: 607902, Gene2Phenotype
SNUPN is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SNUPN-related muscular dystrophy with or without multi-system involvement are strong, biallelic_autosomal and loss of function (PMIDs: 38366623, 38413582). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03776.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SNUPN-related muscular dystrophy with or without multi-system involvement; MONDO:0971171

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

SNUPN-related muscular dystrophy with or without multi-system involvement
MONDO:0971171

OMIM

607902

Clinvar variants

Variants in SNUPN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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 DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38366623; 38413582 Phenotypes for gene: SNUPN were set to SNUPN-related muscular dystrophy with or without multi-system involvement; MONDO:0971171

DDG2P Gene: SNUPN