Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.4
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Mediterranean fever with hidradenitis suppurativa
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
|
Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Early Onset Inflammatory Bowel Disease
|
Level 2: Viral research
Version 1.141
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
- Recurrent fever, serositis and inflammation responsive to colchicine
- Predisposes to vasculitis and inflammatory bowel disease
- Autoinflammatory Disorders
|
Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
- Recurrent fever, serositis and inflammation responsive to colchicine
- Predisposes to vasculitis and inflammatory bowel disease
- Autoinflammatory Disorders
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
- Familial Mediterranean fever, AD, OMIM:134610
|