Cytopenias and congenital anaemias
Gene: G6PC3EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment 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.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- 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
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for G6PC3 were set to 19118303
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for G6PC3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)G6PC3 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)G6PC3 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services