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  3. PCCB
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Stroke

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Metabolic stroke can be a feature of the condition.
Sources: Literature
Created: 12 May 2020, 5:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 May 2020, 5:09 a.m.

Panel version: 0.35

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.

17 Mar 2021, 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).

17 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PCCB was added gene: PCCB was added to Stroke. Sources: Literature Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 30356112; 7769171; 6497733; 30037889; 18986243 Review for gene: PCCB was set to GREEN