PLG

plasminogen
OMIM: 173350, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber PLG in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Plasminogen deficiency, type I
  • Dysplasminogenemia
  • MIM#217090

Green PLG in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Plasminogen deficiency, type I, MIM# 217090

Green PLG in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hereditary angioedema-4 (HAE4), MIM#619360
  • Plasminogen deficiency, type I, MIM# 217090

Green PLG in Hereditary angioedema


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary angioedema-4 (HAE4), MIM#619360

Green PLG in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Plasminogen deficiency, type I, 217090 (3)

Green PLG in Additional findings_Paediatric


Level 2: Screening
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hereditary angioedema-4 (HAE4), MIM#619360
  • Plasminogen deficiency, type I, MIM# 217090

Green PLG in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Plasminogen deficiency, type I, MIM# 217090
  • Hydrocephalus

Green PLG in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Plasminogen deficiency, type I, 217090 (3)

Green PLG in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Plasminogen deficiency, type I, MIM# 217090
Tags
  • treatable
  • haematological