Cytopenias and congenital anaemias
Gene: G6PC3Comment on list classification: Kept rating as green: Note that 'Anemia' and 'Dysplastic changes in all cell lineages in the bone marrow' listed as phenotypes in OMIM clinical synopsis for MIM:612541. >3 cases from varied populations supporting causation for severe congenital neutropenia.Created: 9 Mar 2017, 3:46 p.m.
Comment when marking as ready: Neutropenia is relevant phenotype for the panel. >3 cases supporting causation.Created: 9 Mar 2017, 10:26 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Mar 2017, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Publications for G6PC3 were set to 19118303
Phenotypes for G6PC3 were set to 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
Mode of inheritance for G6PC3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
G6PC3 was created by LouiseD
G6PC3 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services