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  2. SCID
This Panel is marked as Retired

SCID (Version 1.9)

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders

Panel types: Rare Disease 100K
Previous code: 55a62bba22c1fc6710839b95
Description
SCID 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.
Panel Activity

10 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

  • Kimberly Gilmour (Great Ormond Street Hopsital)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sophie Hambleton (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • Christopher Duncan (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

25 Entities

25 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green List (high evidence)
ADA
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, 102700
  • T-B- SCID
  • T-B+ SCID
Tags
  • gene-therapy-trial
Green List (high evidence)
AK2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • reticular dysgenesis with sensorineural deafness
Tags
Green List (high evidence)
CD3D
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive,
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • T-B+ SCID
Tags
Green List (high evidence)
CD3E
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe Combined Immune Deficiency
  • Immunodeficiency due to defect in CD3-epsilon
  • T-B+ SCID
Tags
Green List (high evidence)
DCLRE1C
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, 602450
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Tags
Green List (high evidence)
IL2RG
6 reviews
5 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe combined immunodeficiency, X-linked, 300400
  • Severe Combined Immune Deficiency
  • T-B+ SCID
  • SCID
Tags
  • gene-therapy-trial
Green List (high evidence)
IL7R
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
  • T-B+ SCID
Tags
Green List (high evidence)
JAK3
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Severe Combined Immune Deficiency
  • T-B+ SCID
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Tags
Green List (high evidence)
LIG4
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
  • Severe Combined Immunodeficiency with Sensitivity to IonizingRadiation
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
  • Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
  • T-B- SCID
  • T-B+ SCID
  • SCID with microcephaly and radiosensitivity
Tags
Green List (high evidence)
NHEJ1
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and
  • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
  • T-B- SCID
  • T-B+ SCID
Tags
Green List (high evidence)
PNP
5 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • T-B+ SCID
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency
Tags
Green List (high evidence)
PRKDC
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, with or without neurologic abnormalities
Tags
Green List (high evidence)
PTPRC
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hepatitic C virus, susceptibility to}, 609532
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • {Hepatitic C virus, susceptibility to}, 609532
  • T-B+ SCID
Tags
Green List (high evidence)
RAG1
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
Tags
Green List (high evidence)
RAG2
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Tags
Green List (high evidence)
TCN2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
Tags
Green List (high evidence)
ZAP70
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Severe Combined Immune Deficiency
  • Selective T-cell defect
Tags
Amber List (moderate evidence)
FOXN1
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • T-B+ SCID
  • T-B+ SCID, congenital alopecia, nail dystrophy
Tags
Amber List (moderate evidence)
LAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Immunodeficiency 52, 617514
Tags
  • watchlist
Amber List (moderate evidence)
TBX1
6 reviews
3 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • T-B+ SCID
Tags
Red List (low evidence)
CD247
4 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B+ SCID
Tags
Red List (low evidence)
ORAI1
4 reviews
2 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B+ SCID
  • immunodeficiency, ectodermal dysplasia and myopathy
Tags
Red List (low evidence)
RAC2
2 reviews
2 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B- SCID
  • T-B+ SCID
Tags
Red List (low evidence)
STAT5B
3 reviews
2 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B+ SCID
Tags
Red List (low evidence)
STIM1
3 reviews
3 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B+ SCID
Tags

Major version comments

  • 20.05.16 - Expert reviews were evaluated, and the panel was revised for Version 1.

Downloads

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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