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Additional findings_Paediatric

Gene: PLN

Red List (low evidence)

PLN (phospholamban)
EnsemblGeneIds (GRCh38): ENSG00000198523
EnsemblGeneIds (GRCh37): ENSG00000198523
OMIM: 172405, Gene2Phenotype
PLN is in 8 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BabySeq Category B gene
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to PLN. Source Expert Review Red was added to PLN. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: PLN Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLN was added gene: PLN was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, dilated