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IBMDx study

Gene: G6PC3

Green List (high evidence)
G6PC3 (glucose-6-phosphatase catalytic subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 unrelated families reported, mouse models. Dursun syndrome describes a subset of patients with pulmonary hypertension.
Created: 15 Jun 2021, 9:57 p.m. | Last Modified: 15 Jun 2021, 9:57 p.m.
Panel Version: 0.260

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541

Publications

Created: 15 Jun 2021, 9:57 p.m.
Last Modified: 15 Jun 2021, 9:57 p.m.
Panel version: Imported from Bone Marrow Failure panel version 0.263

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dursun syndrome, MIM# 612541
  • MONDO:0012930
  • Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
OMIM
611045
Clinvar variants
Variants in G6PC3
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: G6PC3 was added gene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: G6PC3 was set to Unknown Phenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541