Muscular dystrophy and myopathy_Paediatric
Gene: SNUPNEnsemblGeneIds (GRCh38): ENSG00000169371
EnsemblGeneIds (GRCh37): ENSG00000169371
OMIM: 607902, Gene2Phenotype
SNUPN is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
Suliman Khan (Victorian Clinical Genetics Services)
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. Exome sequencing revealed nine hypomorphic biallelic variants in the SNUPN gene, predominantly clustered in the last coding exon. Functional studies showed that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts.
PMID: 38366623: reported five individuals from two unrelated families with limb-girdle muscular dystrophy.
Sources: LiteratureCreated: 7 Mar 2024, 12:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
- OMIM
- 607902
- Clinvar variants
- Variants in SNUPN
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related to Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: snupn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: snupn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Suliman Khan (Victorian Clinical Genetics Services)gene: SNUPN was added gene: SNUPN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to PMID: 38413582; PMID: 38366623 Phenotypes for gene: SNUPN were set to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 Penetrance for gene: SNUPN were set to unknown