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  3. PCBD1
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Renal Tubulopathies and related disorders

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 1 Mar 2021, 9:57 a.m.
Last Modified: 1 Mar 2021, 9:57 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.6513

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, 5:14 a.m. | Last Modified: 1 Mar 2021, 5:14 a.m.
Panel Version: 0.6501
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, 4:49 a.m. | Last Modified: 1 Mar 2021, 4:53 a.m.
Panel Version: 0.6494

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MODY; Hyperphenylalaninemia, BH4-deficient, D 264070

Publications

Created: 1 Mar 2021, 4:49 a.m.
Last Modified: 1 Mar 2021, 4:53 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.6501

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
OMIM
126090
Clinvar variants
Variants in PCBD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, 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 Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green 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 Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070