Description
Congenital neutropaenia eligibility statement:

Relevant diseases:

- A- or hypo-gammaglobulinaemia 
- Agranulocytosis
- Congenital neutropaenia
- SCID
- Combined B and T cell defect

Primary immunodeficiency disorders inclusion criteria (29434)
- Suspected primary immunodeficiency diagnosed by a consultant immunologist, particularly if familial.
- Appropriate available diagnostic tests should have ruled out mutations in relevant known genes.
- All cases must be discussed and approved by the PID-MDT at the recruiting GMC

Primary immunodeficiency disorders exclusion criteria (29434)
- Known genetic cause already identified in proband or family member with similar phenotype.
- Secondary immunodeficiency likely

Prior genetic testing guidance (29434)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29434)
These requirements will be kept under continual review during the main programme and may be subject to change.

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Tracy Briggs (Manchester Genomic Medicine Centre)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Peter Arkwright (Royal Manchester Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sophie Hambleton (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

17 genes

17 reviewed, 13 green

List Gene Reviews Mode of inheritance Details
17 genes
Green Green List (high evidence)
CXCR4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • WHIM syndrome 193670
  • Myelokathexis, isolated
Green Green List (high evidence)
ELANE
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
Green Green List (high evidence)
G6PC3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Dursun syndrome, 612541
  • Severe Congenital Neutropenia
Green Green List (high evidence)
GFI1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, nonimmune chronic idiopathic, of adults 607847
  • Severe congenital 2, autosomal dominant, 613107
Green Green List (high evidence)
HAX1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
  • Severe congenital neutropenia
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Green Green List (high evidence)
SBDS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Shwachman-Diamond syndrome, 260400
Green Green List (high evidence)
SLC37A4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Glycogen storage disease Ib 232220
Green Green List (high evidence)
TAZ
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060
Green Green List (high evidence)
TCN2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Transcobalamin II deficiency 275350
Green Green List (high evidence)
VPS13B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen syndrome 216550
Green Green List (high evidence)
VPS45
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
Green Green List (high evidence)
WAS
5 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital, X-linked, 300299
Tags
  • gene-therapy-trial
Red Red List (low evidence)
CSF3R
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutrophilia, hereditary, 162830
  • Severe congenital neutropenic
Red Red List (low evidence)
FCGR3B
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia,alloimmuneneonatal
Red Red List (low evidence)
GATA1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
Red Red List (low evidence)
RAC2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutrophil immunodeficiency syndrome, 608203

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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