Maturity-onset Diabetes of the Young
Gene: PCBD1EnsemblGeneIds (GRCh38): ENSG00000166228
EnsemblGeneIds (GRCh37): ENSG00000166228
OMIM: 126090, Gene2Phenotype
PCBD1 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty.Created: 1 Mar 2021, 9:57 a.m. | Last Modified: 1 Mar 2021, 9:57 a.m.
Panel Version: 0.6513
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Publications
Michelle Torres (Victorian Clinical Genetics Services)
PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.
PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Sources: LiteratureCreated: 1 Mar 2021, 5:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MODY
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- MODY
- OMIM
- 126090
- Clinvar variants
- Variants in PCBD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pcbd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: pcbd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Michelle Torres (Victorian Clinical Genetics Services)gene: PCBD1 was added gene: PCBD1 was added to Maturity-onset Diabetes of the Young. Sources: Literature Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 24848070; 24204001 Phenotypes for gene: PCBD1 were set to MODY Review for gene: PCBD1 was set to GREEN