Familial 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 list classification: Promoted from amber to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).Created: 1 Mar 2019, 2:16 p.m.
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.
Gene: pcbd1 has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D 264070
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PCBD1 was added to Familial diabetespanel. Sources: Expert Review