PLAT

plasminogen activator, tissue type
OMIM: 173370, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PLAT in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Tags
  • disputed

Green PLAT in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic disease, MONDO:0002254, PLAT-related

Green PLAT in Mendeliome


Version 2.16

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic disease, MONDO:0002254, PLAT-related
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872
Tags
  • disputed

Green PLAT in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic disease, MONDO:0002254, PLAT-related

Green PLAT in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic disease, MONDO:0002254, PLAT-related