Stroke
Gene: PCCAEnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA is in 16 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Propionicacidemia 606054
- Tags
- OMIM
- 232000
- Clinvar variants
- Variants in PCCA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Aminoacidopathy
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Hyperammonaemia
- Prepair 500+
- Callosome
- Autism
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: PCCA.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcca has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PCCA were changed from to Propionicacidemia 606054
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pcca has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Bryony Thompson (Royal Melbourne Hospital)gene: PCCA was added gene: PCCA was added to Stroke. Sources: Literature Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 21986446; 18986243; 20142522 Review for gene: PCCA was set to GREEN