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Autism

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 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/SYNGAP1 Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 13 / 46
Created: 1 Apr 2019, 11:26 a.m.

Details

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SYNGAP1 were changed from 20531469; 24267886; 28554332; 28708303; 25363760; 27824329; 23708187; 26989088; 27525107; 21237447; 26401017; 23161826; 19196676; 23020937 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes DD/NDD, ID, ASD, EP, EPS for gene: SYNGAP1

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SYNGAP1 were changed from to 20531469; 24267886; 28554332; 28708303; 25363760; 27824329; 23708187; 26989088; 27525107; 21237447; 26401017; 23161826; 19196676; 23020937

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SYNGAP1. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SYNGAP1 was added gene: SYNGAP1 was added to Autism. Sources: SFARI Mode of inheritance for gene: SYNGAP1 was set to