Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Obesity with impaired prohormone processing, OMIM:600955
- obesity due to prohormone convertase I deficiency, MONDO:0010961
- {Obesity, susceptibility to, BMIQ12},OMIM:612362
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Version 3.12
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
- NHS GMS
- Expert Review Amber
- Expert review
Phenotypes
- Obesity with impaired prohormone processing, OMIM:600955
- obesity due to prohormone convertase I deficiency, MONDO:0010961
- {Obesity, susceptibility to, BMIQ12},OMIM:612362
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Version 3.3
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
Phenotypes
- Obesity with impaired prohormone processing, OMIM:600955
- obesity due to prohormone convertase I deficiency, MONDO:0010961
- {Obesity, susceptibility to, BMIQ12},OMIM:612362
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