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Severe Paediatric Disorders

Gene: SHANK2

Green List (high evidence)

SHANK2 (SH3 and multiple ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000162105
EnsemblGeneIds (GRCh37): ENSG00000162105
OMIM: 603290, Gene2Phenotype
SHANK2 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SHANK2; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Autism susceptibility 17}, 613436 (3); Mode of inheritance: ND
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Autism susceptibility 17}, 613436
OMIM
603290
Clinvar variants
Variants in SHANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SHANK2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism susceptibility 17}, 613436 for gene: SHANK2

20 Feb