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  3. SYNGAP1
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Cerebral Palsy

Gene: SYNGAP1

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

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

2 additional individuals with mono-allelic stopgain variants reported in large-scale exome sequencing study (PMID: 38693247).
Created: 27 May 2024, 2:25 p.m. | Last Modified: 27 May 2024, 2:25 p.m.
Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 5, MIM#612621

Publications

Created: 27 May 2024, 2:25 p.m.
Last Modified: 27 May 2024, 2:25 p.m.
Panel version: 1.194

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Moreno de Luca et al. found 3 heterozygous de novo SYNGAP1 mutations in a large CP cohort study. In addition, van Eyk et al. found one non-maternally inherited VUS in a child with CP in a cohort study.
Sources: Literature
Created: 1 Aug 2023, 12:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 5 MIM#612621

Publications

Created: 1 Aug 2023, 12:22 a.m.

Panel version: 1.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 5 MIM#612621
OMIM
603384
Clinvar variants
Variants in SYNGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syngap1 has been classified as Green List (High Evidence).

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syngap1 has been classified as Green List (High Evidence).

1 Aug 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: SYNGAP1 was added gene: SYNGAP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNGAP1 were set to 33528536; 31700678 Phenotypes for gene: SYNGAP1 were set to Intellectual developmental disorder, autosomal dominant 5 MIM#612621 Review for gene: SYNGAP1 was set to GREEN