PLN

phospholamban
OMIM: 172405, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber PLN in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
  • founder

Green PLN in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1P, MIM# 609909

Green PLN in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 18 (MIM #613874)

Green PLN in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1P, MIM# 609909
  • Cardiomyopathy, hypertrophic, 18 (MIM #613874)

Green PLN in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P

Red PLN in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BabySeq Category B gene
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated

Red PLN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • BabySeq Category B gene
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, familial hypertrophic
  • Cardiomyopathy, dilated

Green PLN in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 18 (MIM #613874)
  • Cardiomyopathy, dilated, 1P, MIM# 609909