Neurotransmitter Defects
Gene: PCBD1EnsemblGeneIds (GRCh38): ENSG00000166228
EnsemblGeneIds (GRCh37): ENSG00000166228
OMIM: 126090, Gene2Phenotype
PCBD1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mild transient hyperphenylalaninemia often detected by newborn screening. Individuals 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, hence Amber rating.Created: 23 Aug 2020, 8:58 a.m. | Last Modified: 23 Aug 2020, 8:58 a.m.
Panel Version: 0.56
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PCBD1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PCBD1 was added gene: PCBD1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCBD1 was set to Unknown