This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: G6PC3
G6PC3 (glucose-6-phosphatase catalytic subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Likely inborn error of metabolism
- Fetal anomalies
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)G6PC3 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN