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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in at least 6 patients.
Created: 19 Jan 2017, 11:48 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D
OMIM
126090
Clinvar variants
Variants in PCBD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PCBD1. Source London North GLH was added to PCBD1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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 Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 27604308 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D