Cytopenia - NOT Fanconi anaemia
Gene: CSF3R
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia; Neutropenia, severe congenital, 7, autosomal recessive, 617014
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
617014 Neutropenia, severe congenital, 7, autosomal recessive
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
617014 Neutropenia, severe congenital, 7
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive 617014; PMID(s): none submittedCreated: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7; PMID(s): 19620628; 12203110; 26324699Created: 8 Feb 2019, 1:43 p.m.
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: CSF3R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive, 617014; PMID(s): 9001427;26324699;24753537Created: 6 Feb 2019, 3:13 p.m.
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.
Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R
Source North West GLH was added to CSF3R.
Added phenotypes 617014 Neutropenia, severe congenital, 7, autosomal recessive for gene: CSF3R
Source Yorkshire and North East GLH was added to CSF3R.
Added phenotypes 617014 Neutropenia, severe congenital, 7 for gene: CSF3R Publications for gene CSF3R were changed from 26324699; 24753537; 9001427 to 26324699; 12203110; 19620628
Source London South GLH was added to CSF3R.
Source NHS GMS was added to CSF3R.
Source Expert Review Green was added to CSF3R. Mode of inheritance for gene CSF3R was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R Publications for gene CSF3R were changed from to 26324699; 24753537; 9001427 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CSF3R was added gene: CSF3R was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CSF3R was set to