G6PC3

glucose-6-phosphatase catalytic subunit 3
OMIM: 611045
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
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
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome, Neutropenia, severe congenital 4, autosomal recessive
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dursun syndrome
R-numbers: R15
Signed-off version 2.1
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