Monogenic diabetes
Gene: PCBD1
Recessive loss of function mutations in PCBD1 cause hyperphenylalaninaemia (HPA) and primapterinuria (MIM264070). More recent studies have reported an HNF1A MODY-like phenotype in patients with recessive PCBD1 mutations. PMID:24848070; report of three families with homozygous null variants in PCBD1, and one family with compound heterozygous missense and nonsense PCBD1 variants. All index cases were diagnosed with paediatric-onset diabetes (range 12-18 years) without features of autoimmunity, were not insulin dependent and responded well to sulphonylurea treatment. Two patients had HPA and the other two had isolated diabetes only. Type 2 diabetes prevalence was increased in the heterozygous carriers who were diagnosed later (>40 years of age). PMID:24204001; report of two patients with hypomagnesemia and MODY diabetes (not autoimmune, not insulin treated, positive C-peptide and good response to sulphonylurea treatment). PMID:24204001; report of two patients with hypomagnesemia and MODY diabetes (not autoimmune, not insulin treated, positive C-peptide and good response to sulphonylurea treatment).Created: 15 Feb 2019, 10:28 a.m.
Publications
Comment on phenotypes: Previous phenotypes:
Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)Created: 16 Mar 2021, 2:14 p.m. | Last Modified: 16 Mar 2021, 2:14 p.m.
Panel Version: 2.29
Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).Created: 28 Jan 2019, 9:41 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PCBD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty).Created: 11 Jan 2019, 10:04 a.m.
Comment on list classification: Classification changed to Amber as two cases of maturity onset diabetes of the young (MODY) reported in PMID 24204001Created: 6 Feb 2017, 11:31 a.m.
Comment on list classification: Gene added to the panel as red due to expert review.Created: 15 Jun 2016, 3:30 p.m.
Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Ivone Leong: Initial gene list and info col
Gene: pcbd1 has been classified as Green List (High Evidence).
Source NHS GMS was added to PCBD1.
gene: PCBD1 was added gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Amber Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 24204001; 24848070 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D