Cytopenias and congenital anaemias
Gene: GSR
Comment when marking as ready: No clear evidence of mutations in humans being linked with haematological disease. A wider deletion in a number of cases has, but it is unclear as to the precise cause. Further evidence needed.Created: 2 Mar 2017, 10:10 a.m.
At present, a number of patients have been reported with spherocytosis, anaemia and other anomalies including ID with a deletion at 8p. There is no clear evidence, in terms of mutational data in humans to link this particular gene (within the deletion) as the cause of the spherocytosis and anaemia. Insufficient evidence for diagnostic use at present.Created: 2 Mar 2017, 10:08 a.m.
Mode of inheritance
Unknown
Phenotypes
Hemolytic anemia due to glutathione reductase deficiency
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for GSR were set to 8533822
Mode of inheritance for GSR was changed to Unknown
GSR was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
GSR was created by LouiseD