Severe early-onset obesity
Gene: PCSK1
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362
Publications for gene: PCSK1 were set to
Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Source Expert list was added to PCSK1. Added phenotypes Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 for gene: PCSK1
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Emory Genetics Laboratory
Model of inheritance for gene PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services
PCSK1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen