G6PC3

glucose-6-phosphatase catalytic subunit 3
OMIM: 611045, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green G6PC3 in Vasculitis Level 2: Immunological disorders Version 0.93	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green G6PC3 in Bone Marrow Failure Level 2: Haematological disorders Version 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541
Green G6PC3 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541
Green G6PC3 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.126 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green G6PC3 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541
Green G6PC3 in Phagocyte Defects Level 2: Immunological disorders Version 1.44 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	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
Red G6PC3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Green G6PC3 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541
Green G6PC3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dursun syndrome, 612541 (3)
Green G6PC3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neutropaenia, congenital
Green G6PC3 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541
Green G6PC3 in IBMDx study Version 0.38	1 review	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
Green G6PC3 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dursun syndrome, MIM# 612541 Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Green G6PC3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Neutropaenia, congenital, MIM#612541 Tags treatable immunological
Green G6PC3 in Prepair 500+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Dursun syndrome, MIM# 612541 Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541