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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21
Component of the following Super Panels:
Renal superpanel - broad
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert
Phenotypes
- Aldosteronism, glucocorticoid-remediable, OMIM:103900
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
- Early onset hypertension with raised urinary 18-hydroxy-steroids, steroid-sensitive
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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Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
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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
- Other
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
Phenotypes
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
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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
- NHS GMS
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
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Version 1.184
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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
- Aldosteronism, glucocorticoid-remediable, 103900
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
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