Hereditary Erythrocytosis
Gene: SH2B3Eligibility criteria for this panel (R405) states that secondary causes of erythrocytosis such as myeloproliferative neoplasm must be excluded prior to testing.Created: 10 Dec 2021, 2:40 p.m. | Last Modified: 10 Dec 2021, 2:41 p.m.
Panel Version: 1.42
Germline variants in this gene are well-known cause of familial myeloproliferative neoplasm, which usually presents with erythrocytosis. Both expert reviews suggests SH2B3 variant testing for JAK2-negative erythrocytosis.Created: 30 Nov 2021, 9:42 p.m. | Last Modified: 30 Nov 2021, 9:42 p.m.
Panel Version: 1.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myeloproliferative neoplasm
Publications
SH2B3 also known as LNK in literature. SH2B3 variants identified in JAK2 negative erythrocytosis
PMID 20843259 identified two patients with variants in the PH domain. A missense variant (644C→T, [A215V]) and a nonsense variant (622G→T, [E208X]). The E208X variant has also been identified previously and reported with an association with Thrombocythemia. Limited patient details reported.
PMID: 23812944 Identified six patients with idiopathic erythrocytosis although due to lack of parental samples unable to determine inheritance.
In both papers variants were for the idiopathic form of erythrocytosis, no details were given about familial erythrocytosis. Therefore rating as Red as not enough evidence for a gene disease relationship between SH2B3 and Hereditary Erythrocytosis.Created: 28 Sep 2020, 10:04 a.m. | Last Modified: 28 Sep 2020, 10:04 a.m.
Panel Version: 1.16
Mode of inheritance
Other
Phenotypes
Hereditary Erythrocytosis
Publications
Comment on list classification: An amber rating has been given to SH2B3, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.Created: 22 Sep 2020, 3:16 p.m. | Last Modified: 22 Sep 2020, 3:16 p.m.
Panel Version: 1.13
GMS Expert review Green
Sources: NHS GMS, Expert reviewCreated: 18 Aug 2020, 4:28 p.m. | Last Modified: 18 Aug 2020, 4:33 p.m.
Panel Version: 1.8
Mode of inheritance
Unknown
Phenotypes
Erythrocytosis, somatic 133100
Publications for gene: SH2B3 were set to 23812944; 20843259
Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Publications for gene: SH2B3 were set to
Tag for-review was removed from gene: SH2B3.
Mode of inheritance for gene: SH2B3 was changed from Unknown to Other
Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SH2B3.
Gene: sh2b3 has been classified as Green List (High Evidence).
gene: SH2B3 was added gene: SH2B3 was added to Hereditary Erythrocytosis. Sources: NHS GMS,Expert list somatic tags were added to gene: SH2B3. Mode of inheritance for gene: SH2B3 was set to Unknown Phenotypes for gene: SH2B3 were set to Erythrocytosis, somatic 133100 Review for gene: SH2B3 was set to GREEN