1. Panels
  2. TEST Undiagnosed metabolic disorders
  3. PCBD1
Genes in panel
Prev Next

TEST Undiagnosed metabolic 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 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
OMIM
126090
Clinvar variants
Variants in PCBD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: PCBD1 was added gene: PCBD1 was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 27604308