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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert list
- Expert Review Green
- Eligibility statement prior genetic testing
- Other
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- RTH alpha
- congenital nongoitrous hypothyroidism 6
- Resistance to thyroid hormone alpha
- Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa)
- Hypothyroidism, congenital, nongoitrous, 6, 614450
- HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
- CHNG6
Tags
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Version 0.36
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review
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Not set
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Sources
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
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Version 3.90
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Congenital hypothyroidism or thyroid agenesis
- Hypothyroidism, Congenital, Nongoitrous, 6, 614450
- Hypothyroidism, congenital, nongoitrous, 6, 614450
- Resistance to thyroid hormone
- skeletal dysplasia
- growth retardation
- macrocephaly
- neurodevelopmental delay
- constipation
- delayed dentition
- macrocytic anaemia
Tags
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hypothyroidism, congenital, nongoitrous, 6, 614450
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