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Cytopenias and congenital anaemias

Gene: GPI

Amber List (moderate evidence)

GPI (glucose-6-phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000105220
EnsemblGeneIds (GRCh37): ENSG00000105220
OMIM: 172400, Gene2Phenotype
GPI is in 4 panels

2 reviews

Helen Brittain (Genomics England Curator)

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

BRIDGE consortium (NIHRBR-RD)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
OMIM
172400
Clinvar variants
Variants in GPI
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Mar 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for GPI were set to 8417789; 8499925; 9856489; 4076245

2 Mar 2017, Gel status: 2

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for GPI was changed to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GPI was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GPI was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen