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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert list
- Expert Review Green
- Eligibility statement prior genetic testing
- Other
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Abnormal thyroid hormone metabolism
- Selenocysteine insertion sequence binding protein 2 (SBP2) defect
- Thyroid hormone metabolism, abnormal, 609698
- THYROID HORMONE METABOLISM, ABNORMAL
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Thyroid hormone metabolism, abnormal, 1, OMIM:609698
- thoracic aortic aneurysm
Tags
- Q2_24_promote_green
- Q2_24_NHS_review
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- THYROID HORMONE METABOLISM, ABNORMAL
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- THYROID HORMONE METABOLISM, ABNORMAL 609698
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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Not set
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Sources
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- Selenocysteine insertion sequence binding protein 2 (SBP2) defect
- Abnormal thyroid hormone metabolism
- Thyroid hormone metabolism, abnormal, 609698
- THYROID HORMONE METABOLISM, ABNORMAL
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