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Autism

Gene: SHANK3

Green List (high evidence)

SHANK3 (SH3 and multiple ankyrin repeat domains 3)
EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 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/SHANK3 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 : 32 / 67
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • Phelan-McDermid syndrome, Rett syndrome-like phenotype
  • DD/NDD, ASD, ID, EPS
OMIM
606230
Clinvar variants
Variants in SHANK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SHANK3 were changed from 21624971; 20385823; 22892527; 18615476; 21378602; 24398551; 17999366; 19566951; 17173049; 20186804; 27876814; 19384346; 22558107; 25188300; 23758760; 26401017 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 Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS for gene: SHANK3

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SHANK3 were changed from to 21624971; 20385823; 22892527; 18615476; 21378602; 24398551; 17999366; 19566951; 17173049; 20186804; 27876814; 19384346; 22558107; 25188300; 23758760; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SHANK3. 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: SHANK3 was added gene: SHANK3 was added to Autism. Sources: SFARI Mode of inheritance for gene: SHANK3 was set to