Level 3: Growth restriction
Level 2: Growth disorders
Version 1.12
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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
- Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747
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Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
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review
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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
- Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
- Insulin-Like Growth Factor I Deficiency
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.66
Latest signed off version: v4.0
(22 Mar 2023)
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review
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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
- Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
- MPD
- microcephalic primordial dwarfism
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
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 3.79
Latest signed off version: v3.1
(22 Mar 2023)
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 608747
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747
- GrowthretardationwithdeafnessandmentalretardationduetoIGF1deficiency,608747
|
Version 3.87
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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
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
- Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
- INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (IGF1 DEFICIENCY)
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Version 1.182
|
review
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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
|