Cytopenias and congenital anaemias
Gene: GPI
Comment when marking as ready: Further evidence required in terms of numbers of cases and detailed phenotypic description.Created: 2 Mar 2017, 9:43 a.m.
Comment on list classification: Some supportive evidence in terms of the mouse model, however only two human cases reported, one with a significantly more complex phenotype. Therefore further evidence required.Created: 2 Mar 2017, 9:42 a.m.
Phenotype of relevance to this panel is haemolytic anaemia. This is well supported in the mouse model (PMID 8417789), however there are two reported cases, one of which has a more complex disorder including granulocyte dysfunction and mental retardation. Therefore, there is not a clear match between the problems in the mouse and the human and I feel that further evidence is required in terms of number of cases and phenotypic description to consider this gene diagnostic grade. Amber at present.Created: 2 Mar 2017, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to glucophosphate isomerase 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 Amber List (Moderate Evidence).
Publications for GPI were set to 8417789; 8499925; 9856489; 4076245
Mode of inheritance for GPI was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
GPI was created by LouiseD
GPI was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen