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  2. Angelman Rett like syndromes
  3. SYNGAP1
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Angelman Rett like syndromes

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 unrelated individuals reported as part of Rett-like cohorts.
Sources: Expert list
Created: 13 Nov 2020, 10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 5, MIM# 612621

Publications

Created: 13 Nov 2020, 10 a.m.

Panel version: 0.31

Details

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

History Filter Activity

13 Nov 2020, 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).

13 Nov 2020, 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).

13 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNGAP1 was added gene: SYNGAP1 was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNGAP1 were set to 31105003 Phenotypes for gene: SYNGAP1 were set to Mental retardation, autosomal dominant 5, MIM# 612621 Review for gene: SYNGAP1 was set to GREEN