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Intellectual disability syndromic and non-syndromic

Gene: PCCA

Green List (high evidence)

PCCA (propionyl-CoA carboxylase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA 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, 1:32 a.m. | Last Modified: 7 Nov 2024, 1:32 a.m.
Panel Version: 0.6628

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidemia MIM#606054

Publications

History Filter Activity

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PCCA 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: PCCA were set to 22593918

7 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PCCA were set to

7 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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

7 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pcca 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: PCCA.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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