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Intellectual_disability

Gene: PTPN21

Red List (low evidence)

PTPN21 (protein tyrosine phosphatase, non-receptor type 21)
EnsemblGeneIds (GRCh38): ENSG00000070778
EnsemblGeneIds (GRCh37): ENSG00000070778
OMIM: 603271, Gene2Phenotype
PTPN21 is in 1 panel

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Details

Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
603271
Clinvar variants
Variants in PTPN21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN21 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)