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Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Leydig cell hypoplasia with hypergonadotropic hypogonadism, Leydig cell hypoplasia with pseudohermaphroditism, Luteinizing hormone resistance,female, 238320
- Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel
- Leydig cell adenoma,somatic,with precocious puberty,176410
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Gender Assignment Gene Panel (UKGTN)
- Endocrine disorders including disorders of sexual development (Emory)
- Leydic cell hypoplasia type 1, 238320
- Precocious puberty, male, 176410
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