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  3. PLAT
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Inherited bleeding disorders

Gene: PLAT

Green List (high evidence)
PLAT (plasminogen activator, tissue type)
EnsemblGeneIds (GRCh38): ENSG00000104368
EnsemblGeneIds (GRCh37): ENSG00000104368
OMIM: 173370, Gene2Phenotype
PLAT is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Tissue Plasminogen Activator deficiency

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Tissue Plasminogen Activator deficiency

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Tissue Plasminogen Activator deficiency
  • Thrombophilia, familial, due to decreased release of PLAT 612348
  • Thrombophilia due to decreased release of tissue plasminogen
OMIM
173370
Clinvar variants
Variants in PLAT
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Aug 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Eligibility statement prior genetic testing was added to PLAT. Panel: Inherited bleeding disorders

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PLAT was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PLAT was added to Inherited bleeding disorderspanel. Source: Other Model of inheritance for gene PLAT was set to Unknown

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PLAT was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLAT was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLAT was created by ellenmcdonagh