Intellectual disability
Gene: PLAT

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: This gene should be rated amber with current evidence as there is one case reported with GDD and two cases reported with only mild ID.
Created: 22 Mar 2025, 10:20 p.m. | Last Modified: 22 Mar 2025, 10:20 p.m.

Panel Version: 8.174

PMID:39574431 reported the identification of three different homozygous truncating variants in PLAT gene in four cases from three unrelated families. All of them presented with tetraventricular hydrocephalus. Dandy–Walker malformation was reported in three unrelated cases (two individuals and one foetus), of which mild intellectual disability was reported in one (family 2). Global developmental delay was reported in another (family 3), but this could partially be explained by a co-occurring Cohen syndrome diagnosis. Mild ID was also reported in the proband from family 1 that did not show Dandy–Walker malformation.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 22 Mar 2025, 10:16 p.m. | Last Modified: 22 Mar 2025, 10:30 p.m.

Panel Version: 8.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

39574431

Created: 22 Mar 2025, 10:16 p.m.
Last Modified: 22 Mar 2025, 10:30 p.m.
Panel version: 8.172

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

neurodevelopmental disorder, MONDO:0700092
intellectual disability, MONDO:0001071

OMIM

173370

Clinvar variants

Variants in PLAT

Penetrance

None

Publications

39574431

Panels with this gene

History Filter Activity

22 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: plat has been classified as Amber List (Moderate Evidence).

22 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLAT was added gene: PLAT was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PLAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAT were set to 39574431 Phenotypes for gene: PLAT were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: PLAT was set to AMBER

Intellectual disability Gene: PLAT