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| Paediatric or syndromic cardiomyopathy v1.65 | PDLIM3 | Ivone Leong Tag Q2_21_rating was removed from gene: PDLIM3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | PDLIM3 | Ivone Leong commented on gene: PDLIM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.64 | PDLIM3 |
Ivone Leong Source Expert Review Amber was added to PDLIM3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v1.20 | PDLIM3 | Ivone Leong Publications for gene: PDLIM3 were set to 25163546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.19 | PDLIM3 | Ivone Leong Tag Q2_21_rating tag was added to gene: PDLIM3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.19 | PDLIM3 | Ivone Leong edited their review of gene: PDLIM3: Added comment: 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.; Changed publications: 17254821, 31424159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.9 | PDLIM3 |
Zornitza Stark changed review comment from: PMID: 30681346 assessed as LIMITED by ClinGen working group. PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense; to: 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 |
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| Paediatric or syndromic cardiomyopathy v1.9 | PDLIM3 | Zornitza Stark reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: None; Publications: 30681346, 26455666, 20801532; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.3 | PDLIM3 | Eleanor Williams Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.3 | PDLIM3 | Eleanor Williams Publications for gene: PDLIM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.38 | PDLIM3 | Ivone Leong Mode of inheritance for gene: PDLIM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | PDLIM3 | Ivone Leong reviewed gene: PDLIM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | PDLIM3 |
Ivone Leong 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) |
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| Paediatric or syndromic cardiomyopathy v0.1 | PDLIM3 |
Ivone Leong 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 |
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