G6PC3

glucose-6-phosphatase catalytic subunit 3
OMIM: 611045
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome OMIM:612541, Neutropenia, severe congenital 4, autosomal recessive OMIM:612541, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome, Neutropenia, severe congenital 4, autosomal recessive
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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