Pituitary hormone deficiency

Gene: PCSK1

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."

Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 4:42 p.m.

Panel Version: 2.106

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 22 Sep 2022, 9:53 a.m. | Last Modified: 22 Sep 2022, 9:53 a.m.

Panel Version: 2.84

Associated with Obesity with impaired prohormone processing (OMIM:600955) and {Obesity, susceptibility to, BMIQ12}(OMIM:612362) in OMIM, but not associated with phenotype in Gen2Phen. PMID: 30383237 reports a homozygous PCSK1 variant in a boy with OMIM:600955 and reviews previously published PCSK1 variants in cases. Although the pituitary endocrine disorders were mild and time varying in the case reported in PMID: 30383237, growth hormone deficieny was seen in 44.4% (8/18) of cases from the literature (table 3).

Created: 22 Sep 2022, 9:53 a.m. | Last Modified: 22 Sep 2022, 9:53 a.m.

Panel Version: 2.83

Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Ppin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R.J Clin Endocrinol Metab. 2019 Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854.PMID:30383237

Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.

Panel Version: 2.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DIARRHOEA, HYPOPITUITARISM, OBESITY

Publications

• 30383237