Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SNUPNEnsemblGeneIds (GRCh38): ENSG00000169371
EnsemblGeneIds (GRCh37): ENSG00000169371
OMIM: 607902, Gene2Phenotype
SNUPN is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Dec 2025, 10:47 a.m. | Last Modified: 11 Dec 2025, 10:47 a.m.
Panel Version: 5.24
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 26 Apr 2025, 4:58 p.m. | Last Modified: 26 Apr 2025, 4:58 p.m.
Panel Version: 4.45
PMID:38366623 reported five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype characterised by early-onset proximal weakness, restrictive respiratory dysfunction and frequent contractures. They were identified with a homozygous variant in SNUPN gene (p.Ile309Ser). Functional studies available in patient-derived cells and muscle biopsies, and in vivo Drosophila model support that SNUPN variants are the cause of this LGMD phenotype.
PMID:38413582 reported 18 children from 15 unrelated families with muscular phenotypes, including proximal upper limb weakness, distal upper and lower limb weakness, and myopathy (EMG) with elevated serum creatinine kinase level. They were identified with nine different hypomorphic biallelic variants in the SNUPN gene, predominantly clustered in the last coding exon. Functional studies showed that SPN1 variant failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts.
This gene has already been associated with relevant phenotype in OMIM (MIM #620793).Created: 26 Apr 2025, 4:56 p.m. | Last Modified: 26 Apr 2025, 4:56 p.m.
Panel Version: 4.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
The study reports:"18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects"
Sources: LiteratureCreated: 24 Aug 2024, 1:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: SNUPN.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to SNUPN. Source Expert Review Green was added to SNUPN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: snupn has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SNUPN were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SNUPN were set to 38413582
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: SNUPN.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dmitrijs Rots (Children's Clinical University Hospital)gene: SNUPN was added gene: SNUPN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38413582 Phenotypes for gene: SNUPN were set to muscular dystrophy Review for gene: SNUPN was set to GREEN