Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.2
Latest signed off version: v3.1
(23 Jun 2022)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Ideopathic Primary Adrenal Failure
- Congenital Adrenal Hypoplasia
- Lipoid adrenal hyperplasia, 201710
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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 3.2
Latest signed off version: v3.1
(23 Jun 2022)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
- Lipoid adrenal hyperplasia, 201710
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Version 2.5
Latest signed off version: v2.4
(30 Jun 2022)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
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Version 3.2
Latest signed off version: v3.1
(23 Jun 2022)
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.4
(23 Jun 2022)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Lipoid adrenal hyperplasia, 201710
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Version 1.117
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Lipoid adrenal hyperplasia, 201710
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