Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
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review
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Not set
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Sources
- Expert Review Red
- Emory Genetics Laboratory
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Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert list
- Expert Review Green
- Eligibility statement prior genetic testing
- Other
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
Phenotypes
- Resistance to thyroid hormone (RTH)
- thyroid hormone unresponsiveness, generalized RTH, RTH beta
- Refetoff syndrome
- Thyroid Hormone Resistance, Selective Pituitary
- PRTH
- 145650
- Thyroid hormone resistance, 188570
- Thyroid hormone resistance, autosomal recessive, 274300
- Thyroid hormone resistance, selective pituitary, 145650
- Thyroid Hormone Resistance (monoallelic)
- THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
- GRTH
- THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
- THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
- THYROID HORMONE UNRESPONSIVENESS
- REFETOFF SYNDROME
- THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
- HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
Tags
|
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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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
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review
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Not set
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Sources
|
Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Unknown
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Sources
|
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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- compromised intellectual development
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Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Resistance to thyroid hormone (RTH)
- THYROID HORMONE UNRESPONSIVENESS
- 145650
- REFETOFF SYNDROME
- PRTH
- Thyroid hormone resistance, autosomal recessive, 274300
- Refetoff syndrome
- THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
- thyroid hormone unresponsiveness, generalized RTH, RTH beta
- Thyroid hormone resistance, 188570
- THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
- THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
- Thyroid Hormone Resistance (monoallelic)
- Thyroid hormone resistance, selective pituitary, 145650
- HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
- GRTH
- Thyroid Hormone Resistance, Selective Pituitary
- THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Tags
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Thyroid hormone resistance, selective pituitary, 145650
- Thyroid hormone resistance, 188570
- Thyroid hormone resistance, autosomal recessive, 274300
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