Muscular dystrophy and myopathy_Paediatric

Gene: SNUPN

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

26 Jul 2024, Gel status: 3

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

8 Mar 2024, Gel status: 3

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

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: snupn has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: snupn has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 0

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