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  3. PCCB
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Aminoacidopathy

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Created: 11 Apr 2022, 6:36 a.m. | Last Modified: 11 Apr 2022, 6:36 a.m.
Panel Version: 0.12853

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidemia - MIM#606054

Publications

Created: 11 Apr 2022, 6:36 a.m.
Last Modified: 11 Apr 2022, 6:36 a.m.
Panel version: Imported from Mendeliome panel version 0.12853

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PCCB.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PCCB were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PCCB was added gene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 29152456 Phenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628