SH2B3

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Name:	SH2B adaptor protein 3
Symbol:	SH2B3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	IDDM20 LNK lymphocyte adaptor protein
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)

Related Diseases

• Essential thrombocythemia
• Growth retardation-mild developmental delay-chronic hepatitis syndrome

Related Gene Panels

• Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ANKRD26	0.00	0
  BPGM	0.00	0
  CSF1R	0.00	0
  CSF3R	0.00	0
  DDX41	0.00	0
  EGLN1	0.00	0
  ELANE	0.00	0
  EPAS1	0.00	0
  EPO	0.00	0
  EPOR	0.00	0
  GATA2	0.00	0
  JAK1	0.00	0
  JAK2	0.00	0
  JAK3	0.00	0
  MPL	0.00	0
  PIEZO1	0.00	0
  SLC30A10	0.00	0
  STAT3	0.00	0
  STAT5B	0.00	0
  THPO	0.00	0
  VHL	0.00	0
  SH2B3	0.00	0