1. Panels
  2. Autoinflammatory disorders
The latest signed off version for the GMS is v2.0. The current version, shown here, may differ from the signed-off version.

Autoinflammatory disorders (Version 2.35)

Level 2: Immunology

Relevant disorders: R413
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v2.0 (1 May 2024)
Previously signed off versions: v1.0
Description
This panel will be used for clinical indication 'R413 Autoinflammatory disorders' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R413 Autoinflammatory disorders'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.
Panel Activity

8 reviewers

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Lauma Freimane (Children's Clinical University Hospital)

    Group: Other
    Workplace: Other diagnostic lab

  • Dorota Rowczenio (Royal Free London NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Nicholas Head (Exeter Genomics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Hannah Knight (NIHR BioResource - University of Cambridge)

    Group: Other
    Workplace: Research lab

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

39 Entities

39 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
39 Entitiess
Green List (high evidence)
ADA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Tags
Green List (high evidence)
ALPK1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • ROSAH syndrome, OMIM:614979
Tags
Green List (high evidence)
CARD14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Psoriasis 2, OMIM:602723
  • Pityriasis rubra pilaris, OMIM:173200
Tags
Green List (high evidence)
COPA
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414
  • COPA syndrome
Tags
Green List (high evidence)
ELF4
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074
Tags
  • Skewed X-inactivation
Green List (high evidence)
IKBKG
4 reviews
3 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Autoinflammatory disease, systemic, X-linked, OMIM:301081
Tags
Green List (high evidence)
IL1RN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, OMIM:612852
Tags
Green List (high evidence)
IL36RN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Psoriasis 14, pustular, OMIM:614204
Tags
Green List (high evidence)
LPIN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Majeed syndrome, OMIM:609628
Tags
Green List (high evidence)
MEFV
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial Mediterranean fever, AR, OMIM:249100
  • Neutrophilic dermatosis, acute febrile, OMIM:608068
  • Familial Mediterranean fever, AD, OMIM:134610
Tags
Green List (high evidence)
MVK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mevalonic aciduria, OMIM:610377
  • Hyper-IgD syndrome, OMIM:260920
Tags
Green List (high evidence)
NLRC4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoinflammation with infantile enterocolitis, OMIM:616050
  • ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Tags
Green List (high evidence)
NLRP12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial cold autoinflammatory syndrome 2, OMIM:611762
Tags
Green List (high evidence)
NLRP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772
  • Familial cold inflammatory syndrome 1, OMIM:120100
  • Muckle-Wells syndrome, OMIM:191900
  • CINCA syndrome, OMIM:607115
Tags
Green List (high evidence)
NOD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
  • Blau syndrome, OMIM:186580
  • {Yao syndrome}, OMIM:617321
Tags
Green List (high evidence)
OTULIN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Tags
Green List (high evidence)
PLCG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
  • Familial cold autoinflammatory syndrome 3, OMIM:614468
Tags
Green List (high evidence)
POMP
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Research
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 2, OMIM:618048
Tags
Green List (high evidence)
PSMB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Tags
  • digenic
Green List (high evidence)
PSMB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
  • digenic
Green List (high evidence)
PSMB9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Tags
  • digenic
Green List (high evidence)
PSTPIP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Tags
Green List (high evidence)
RBCK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Tags
Green List (high evidence)
RELA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Research
Phenotypes
  • Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Tags
Green List (high evidence)
RIPK1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Research
Phenotypes
  • Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852
  • Immunodeficiency 57 with autoinflammation, OMIM: 618108
Tags
Green List (high evidence)
SH3BP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cherubism, OMIM:118400
Tags
Green List (high evidence)
SLC29A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Tags
Green List (high evidence)
TBK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Autoinflammation with arthritis and vasculitis, OMIM:620880
Tags
Green List (high evidence)
TMEM173
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green List (high evidence)
TNFAIP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
Tags
Green List (high evidence)
TNFRSF1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Periodic fever, familial, OMIM:142680
Tags
Green List (high evidence)
UBA1
2 reviews
1 green 		Other
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • VEXAS syndrome, somatic, OMIM:301054
Tags
  • somatic
Amber List (moderate evidence)
IL17RA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 51, OMIM:613953
Tags
  • watchlist
Amber List (moderate evidence)
ITCH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385
  • syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Tags
  • Q3_25_NHS_review
  • Q3_25_promote_green
Amber List (moderate evidence)
OGFRL1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cherubism
Tags
Amber List (moderate evidence)
PRF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Tags
Red List (low evidence)
ADA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
  • Adenosine deaminase deficiency, partial, OMIM:102700
Tags
Red List (low evidence)
GP6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Bleeding disorder, platelet-type, 11, OMIM:614201
Tags
Red List (low evidence)
SEC23B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dyserythropoietic anemia, congenital, type II, OMIM:224100
Tags

Major version comments

  • 2024-05-01 12:50 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

    2022-11-30 15:03 Catherine Snow (Genomics England) promoted panel to 1.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (1.0) following this.

Downloads

Download lists

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

Download Version