G6PC3

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green G6PC3 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dursun syndrome OMIM:612541 Neutropenia, severe congenital 4, autosomal recessive OMIM:612541 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Red G6PC3 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Expert Review Red Expert list
Green G6PC3 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs Congenital neutropenia Dursun syndrome, 612541 Severe Congenital Neutropenia Neutropenia, severe congenital 4, autosomal recessive, 612541 Congenital defects of phagocyte number or function Neutropenia, severe congenital 4
Green G6PC3 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Dursun syndrome OMIM:612541 Neutropenia, severe congenital 4, autosomal recessive OMIM:612541 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Green G6PC3 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Neutropenia, severe congenital 4, autosomal recessive, 612541 Dursun syndrome, 612541 Severe Congenital Neutropenia Neutropenia, severe congenital 4 Congenital neutropenia Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs Congenital defects of phagocyte number or function
Green G6PC3 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Inherited Bone Marrow Failure Syndromes - Neutropenia Severe congenital neutropenic Neutropenia, Severe Congenital, 4 Autosomal Dominant Neutropenia, severe congenital 4, autosomal recessive, 612541 Dursun syndrome, 612541 Severe Congenital Neutropenia
Green G6PC3 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Dursun syndrome, 612541 Severe congenital neutropenic 612541 Neutropenia, severe congenital 4, autosomal recessive Inherited Bone Marrow Failure Syndromes - Neutropenia Neutropenia, severe congenital 4, autosomal recessive, 612541 Neutropenia, Severe Congenital, 4 Autosomal Dominant 612541 Neutropenia, severe congenital 4 Severe Congenital Neutropenia
Green G6PC3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541
Green G6PC3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dursun syndrome
Green G6PC3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Dursun syndrome Neutropenia, severe congenital 4, autosomal recessive
Red G6PC3 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red G6PC3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH