Cytopenia - NOT Fanconi anaemia
Gene: FCGR3BEnsemblGeneIds (GRCh38): ENSG00000162747
EnsemblGeneIds (GRCh37): ENSG00000162747
OMIM: 610665, Gene2Phenotype
FCGR3B is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Also note review from Helen Brittain (Genomics England Clinical Team) on 100K panel Cytopenias and congenital anaemias (159) from 9 Mar 2017:
"Relevant phenotype affects neutrophils only, on a transient basis owing to presence of antibodies in mother and antigen in fetus (as a result of different genetic factors in father and mother.). Therefore not a germline condition associated with mutations in the child."Created: 17 Apr 2024, 10:13 a.m. | Last Modified: 17 Apr 2024, 10:13 a.m.
Panel Version: 3.32
Dmitrijs Rots (Children's Clinical University Hospital)
Cannot find sufficient evidence for being in the panel (even as amber). Only association-level evidence, not reaching monogenic level (e.g. https://pubmed.ncbi.nlm.nih.gov/36754570/)Created: 26 Jan 2024, 10:35 a.m. | Last Modified: 26 Jan 2024, 10:35 a.m.
Panel Version: 3.21
Louise Daugherty (Genomics England Curator)
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FCGR3B; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Other - please specify in evaluation comments; Phenotypes: Neutropenia,alloimmuneneonatal; PMID(s): none submittedCreated: 6 Feb 2019, 3:13 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Details
- Mode of Inheritance
- Other - please specify in evaluation comments
- Sources
-
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Neutropenia,alloimmuneneonatal
- OMIM
- 610665
- Clinvar variants
- Variants in FCGR3B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: fcgr3b has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FCGR3B.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to FCGR3B. Mode of inheritance for gene FCGR3B was changed from to Other - please specify in evaluation comments Added phenotypes Neutropenia,alloimmuneneonatal for gene: FCGR3B Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FCGR3B was added gene: FCGR3B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FCGR3B was set to