Cytopenias and congenital anaemias

Gene: GPI

I don't know

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

• 8417789
• 8499925
• 9856489
• 4076245

Green List (high evidence)

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