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  3. SYNGAP1
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Fetal anomalies

Gene: SYNGAP1

Red List (low evidence)
SYNGAP1 (synaptic Ras GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000197283
EnsemblGeneIds (GRCh37): ENSG00000197283
OMIM: 603384, Gene2Phenotype
SYNGAP1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 23 Feb 2022, 3:52 a.m. | Last Modified: 23 Feb 2022, 3:52 a.m.
Panel Version: 0.3943

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, autosomal dominant 5 (MIM # 612621)

Created: 23 Feb 2022, 3:52 a.m.
Last Modified: 23 Feb 2022, 3:52 a.m.
Panel version: 0.3943

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26079862; 10 unrelated patients with nonsyndromic intellectual disability
Created: 4 Mar 2020, 4:24 a.m. | Last Modified: 4 Mar 2020, 4:24 a.m.
Panel Version: 0.2371

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, autosomal dominant 5 (MIM # 612621)

Publications

Created: 4 Mar 2020, 4:24 a.m.
Last Modified: 4 Mar 2020, 4:24 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2371

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual disability, autosomal dominant 5 (MIM # 612621)
OMIM
603384
Clinvar variants
Variants in SYNGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syngap1 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYNGAP1 were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY to Intellectual disability, autosomal dominant 5 (MIM # 612621)

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYNGAP1 were set to

23 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYNGAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNGAP1 was added gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNGAP1 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY