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Cardiomyopathies - including childhood onset

Gene: PDLIM3

Green List (high evidence)

PDLIM3 (PDZ and LIM domain 3)
EnsemblGeneIds (GRCh38): ENSG00000154553
EnsemblGeneIds (GRCh37): ENSG00000154553
OMIM: 605889, Gene2Phenotype
PDLIM3 is in 5 panels

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

PMID: 30681346 assessed as LIMITED by ClinGen working group. Note gene is rated RED on multiple other panels.

PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense
Created: 18 Oct 2020, 6 a.m. | Last Modified: 18 Oct 2020, 6:01 a.m.
Panel Version: 1.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrophic cardiomyopathy

Publications

Eleanor Williams (Genomics England Curator)

Comment on publications: Adding PMID: 25163546 Haas et al 2015 Atlas of the clinical genetics of human dilated cardiomyopathy. Reports a frameshift variant in PDLIM3
Created: 14 Jan 2020, 10:47 a.m. | Last Modified: 14 Jan 2020, 10:47 a.m.
Panel Version: 1.3

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Variants in this gene seem to confer susceptibility to DCM but may not directly cause it (PMID: 17254821; 31424159). Therefore, this gene should be downgraded from Green to Amber/Red.
Created: 15 Apr 2021, 11:02 a.m. | Last Modified: 15 Apr 2021, 11:02 a.m.
Panel Version: 1.19
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Publications

Rebecca Whittington (South West GLH)

I don't know

No phenotype on OMIM
Created: 25 Mar 2019, 4:30 p.m.
Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 3 truncating variants detected with DCM including nonsense variants, Haas 2014, Bottillio and Arola 2007. Appears to have some early adulthood onset but also see comments about paediatric case in lab.
Created: 25 Mar 2019, 4:27 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
Tags
Q2_21_rating
OMIM
605889
Clinvar variants
Variants in PDLIM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PDLIM3 were set to 25163546

15 Apr 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PDLIM3.

14 Jan 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PDLIM3 were set to

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PDLIM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Dec 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PDLIM3. Source NHS GMS was added to PDLIM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PDLIM3 was added gene: PDLIM3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: PDLIM3 was set to Unknown