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| Paediatric or syndromic cardiomyopathy v2.6 | LMOD2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: LMOD2. Tag Q2_22_NHS_review was removed from gene: LMOD2. |
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| Paediatric or syndromic cardiomyopathy v2.6 | LMOD2 | Arina Puzriakova reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v2.5 | LMOD2 |
Arina Puzriakova Source Expert Review Green was added to LMOD2. Source NHS GMS was added to LMOD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v1.73 | LMOD2 | Ivone Leong Phenotypes for gene: LMOD2 were changed from dilated cardiomyopathy to dilated cardiomyopathy, MONDO:0005021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.72 | LMOD2 | Ivone Leong Tag Q2_22_NHS_review tag was added to gene: LMOD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.72 | LMOD2 | Ivone Leong Tag Q2_22_rating tag was added to gene: LMOD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.72 | LMOD2 | Ivone Leong Classified gene: LMOD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.72 | LMOD2 | Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Faculty of Health, University of Plymouth). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the expert review this gene should be rated Green at the next review as there is enough evidence to support a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.72 | LMOD2 | Ivone Leong Gene: lmod2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.71 | LMOD2 | Ivone Leong Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.70 | LMOD2 |
Julia Baptista gene: LMOD2 was added gene: LMOD2 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052 Phenotypes for gene: LMOD2 were set to dilated cardiomyopathy Review for gene: LMOD2 was set to GREEN Added comment: Biallelic loss of function variants reported in four families to date. Three with homozygous variants and one compound heterozygous. Frameshift, canonical splice site and nonsense variants reported. Null mice model recapitulates the human phenotype of severe neonatal-onset cardiomyopathy. Sources: Literature |
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