Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
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Level 2: Viral research
Version 1.142
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2029
- IUIS Classification February 2018
- SCID v1.6
- London North GLH
- GOSH PID v.8.0
- 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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- SCID v1.6
Phenotypes
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
- T-B+ SCID
- Combined immunodeficiency
- Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
- Combined immunodeficiencies with associated or syndromic features
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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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
- GOSH PID v.8.0
- SCID v1.6
Phenotypes
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
- T-B+ SCID
- Combined immunodeficiency
- Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
- Combined immunodeficiencies with associated or syndromic features
Tags
- to_be_confirmed_NHSE
- for-review
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590
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Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
Phenotypes
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Growth hormone insensitivity with immunodeficiency, 245590
|