Monogenic diabetes

Gene: PCBD1

Green List (high evidence)

PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000166228
EnsemblGeneIds (GRCh37): ENSG00000166228
OMIM: 126090, Gene2Phenotype
PCBD1 is in 10 panels

5 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Classification changed to Amber as two cases of maturity onset diabetes of the young (MODY) reported in PMID 24204001
Created: 6 Feb 2017, 11:31 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as red due to expert review.
Created: 15 Jun 2016, 3:30 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, 264070
  • Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
OMIM
126090
Clinvar variants
Variants in PCBD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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)

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pcbd1 has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PCBD1.

18 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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