DEMO Diabetes neonatal onset
Gene: G6PDEnsemblGeneIds (GRCh38): ENSG00000160211
EnsemblGeneIds (GRCh37): ENSG00000160211
OMIM: 305900, Gene2Phenotype
G6PD is in 6 panels
1 review
Ellen McDonagh (Genomics England Curator)
There is a high level of evidence for this gene to be on this panel.
Sources: LiteratureCreated: 3 Dec 2019, 6:31 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hemolytic anaemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- hemolytic anaemia
- Tags
- OMIM
- 305900
- Clinvar variants
- Variants in G6PD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: g6pd has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: G6PD was added gene: G6PD was added to DEMO Diabetes neonatal onset. Sources: Literature treatable tags were added to gene: G6PD. Mode of inheritance for gene: G6PD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: G6PD were set to 1234568 Phenotypes for gene: G6PD were set to hemolytic anaemia Review for gene: G6PD was set to GREEN gene: G6PD was marked as current diagnostic