Red cell disorders
Gene: SH2B3EnsemblGeneIds (GRCh38): ENSG00000111252
EnsemblGeneIds (GRCh37): ENSG00000111252
OMIM: 605093, Gene2Phenotype
SH2B3 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Limited reports, variants appear to be somatic.
Sources: Expert ReviewCreated: 16 Sep 2021, 3:54 a.m.
Mode of inheritance
Other
Phenotypes
Erythrocytosis, somatic, MIM# 133100
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Erythrocytosis, somatic, MIM# 133100
- Tags
- OMIM
- 605093
- Clinvar variants
- Variants in SH2B3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SH2B3 was added gene: SH2B3 was added to Red cell disorders. Sources: Expert Review somatic tags were added to gene: SH2B3. Mode of inheritance for gene: SH2B3 was set to Other Publications for gene: SH2B3 were set to 34349782; 23812944; 20843259 Phenotypes for gene: SH2B3 were set to Erythrocytosis, somatic, MIM# 133100 Mode of pathogenicity for gene: SH2B3 was set to Other Review for gene: SH2B3 was set to AMBER