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BabyScreen+ newborn screening

Gene: PCCB

Green List (high evidence)

PCCB (propionyl-CoA carboxylase beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000114054
EnsemblGeneIds (GRCh37): ENSG00000114054
OMIM: 232050, Gene2Phenotype
PCCB is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Typically presents in the first few weeks of life.

Treatment: diet, carnitine, biotin, metronidazole, liver transplantation, N-carbamylglutamate

Non-genetic confirmatory tests: serum amino acids, urine organic acids
Created: 5 Oct 2022, 6:09 a.m. | Last Modified: 5 Oct 2022, 6:09 a.m.
Panel Version: 0.275

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidaemia, MIM#606054

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

is on the current VCGS newborn screening panel
Created: 26 Sep 2022, 2:38 a.m. | Last Modified: 26 Sep 2022, 2:38 a.m.
Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

28 Jul 2024, Gel status: 3

Set Phenotypes

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Propionicacidaemia, MIM#606054 for gene: PCCB

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: PCCB.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCCB were changed from Propionicacidemia to Propionicacidaemia, MIM#606054

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PCCB.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCCB was added gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia