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Hereditary Spastic Paraplegia - paediatric

Gene: SNAPC4

Green List (high evidence)
SNAPC4 (small nuclear RNA activating complex polypeptide 4)
EnsemblGeneIds (GRCh38): ENSG00000165684
EnsemblGeneIds (GRCh37): ENSG00000165684
OMIM: 602777, Gene2Phenotype
SNAPC4 is in 4 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Ten individuals from eight families with neurodevelopmental disorder found to be biallelic for variants in SNAPC4
- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice
- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts
Sources: Literature
Created: 6 Apr 2023, 2:30 a.m. | Last Modified: 6 Apr 2023, 2:43 a.m.
Panel Version: 1.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Apr 2023, 2:30 a.m.
Last Modified: 6 Apr 2023, 2:43 a.m.
Panel version: 1.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515
OMIM
602777
Clinvar variants
Variants in SNAPC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNAPC4 were changed from Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snapc4 has been classified as Green List (High Evidence).

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snapc4 has been classified as Green List (High Evidence).

6 Apr 2023, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: SNAPC4 was added gene: SNAPC4 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAPC4 were set to 36965478 Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related Review for gene: SNAPC4 was set to GREEN gene: SNAPC4 was marked as current diagnostic