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  3. SNAP25
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Fetal anomalies

Gene: SNAP25

Amber List (moderate evidence)
SNAP25 (synaptosome associated protein 25)
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported with contractures. Subsequent reports more consistent with DEE phenotype, presenting post-natally.
Created: 28 Jan 2022, 7:35 a.m. | Last Modified: 28 Jan 2022, 7:35 a.m.
Panel Version: 0.2910

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myasthenic syndrome, congenital, 18, MIM# 616330

Publications

Created: 28 Jan 2022, 7:35 a.m.
Last Modified: 28 Jan 2022, 7:35 a.m.
Panel version: 0.2910

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID neurodevelopmental disorder rather than muscle disorder, so OMIM entry needs to be edited.
> 5 patients reported.
Sources: Expert list
Created: 10 Dec 2019, 10:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Myasthenic syndrome, congenital, 18; OMIM #616330

Publications

Created: 10 Dec 2019, 10:37 p.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1227

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 18, MIM# 616330
  • Developmental and epileptic encephalopathy
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: snap25 has been classified as Amber List (Moderate Evidence).

28 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability to Myasthenic syndrome, congenital, 18, MIM# 616330; Developmental and epileptic encephalopathy

28 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SNAP25 were set to

28 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SNAP25 was added gene: SNAP25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability