Level 3: Growth restriction
Level 2: Growth disorders
Version 1.13
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert list
- Emory Genetics Laboratory
- Literature
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
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Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Other
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
- Microcephalic primordial dwarfism
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Green
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Insulin-like growth factor I deficiency, OMIM:608747
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
|