Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
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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
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Septooptic dysplasia, OMIM:182230
- Septooptic dysplasia, MONDO:0008428
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SEPTOOPTIC DYSPLASIA 256657
- HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358
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Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
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Version 1.182
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pituitary hormone deficiency, combined, 5, 182230
- Growth hormone deficiency with pituitary anomalies, 182230
- Septooptic dysplasia, 182230
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