Phagocyte Defects
Gene: G6PC3EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 20 unrelated families reported, mouse models. Dursun syndrome describes a subset of patients with pulmonary hypertension.Created: 15 Jun 2021, 10 p.m. | Last Modified: 15 Jun 2021, 10 p.m.
Panel Version: 0.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541
- MONDO:0012930
- Dursun syndrome, MIM# 612541
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Vasculitis
- Pulmonary Arterial Hypertension
- Intellectual disability syndromic and non-syndromic
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- IBMDx study
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: g6pc3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: G6PC3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: G6PC3 was added gene: G6PC3 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: G6PC3 was set to Unknown