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  2. Monogenic Diabetes
  3. PCBD1
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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 8 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 1 Mar 2021, 5:12 a.m. | Last Modified: 1 Mar 2021, 5:12 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MODY

Publications

Created: 1 Mar 2021, 5:12 a.m.
Last Modified: 1 Mar 2021, 5:12 a.m.
Panel version: 0.6

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

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCBD1 was added gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS 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, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)