Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

ID is a feature of this condition
Created: 7 Nov 2024, 1:33 a.m. | Last Modified: 7 Nov 2024, 1:33 a.m.
Panel Version: 0.6629

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidemia MIM#606054

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PCCB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PCCB were set to 22593918

7 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PCCB were set to

7 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PCCB.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCCB was added gene: PCCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCCB was set to Unknown