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| Paediatric or syndromic cardiomyopathy v1.65 | SPEG | Ivone Leong Tag Q2_21_rating was removed from gene: SPEG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | SPEG | Ivone Leong commented on gene: SPEG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.64 | SPEG |
Ivone Leong Source Expert Review Green was added to SPEG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v1.42 | SPEG | Ivone Leong Tag Q2_21_rating tag was added to gene: SPEG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.42 | SPEG | Ivone Leong Classified gene: SPEG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.42 | SPEG | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. DCM is are reported in some of the reported cases (>3 cases). This gene has enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.42 | SPEG | Ivone Leong Gene: speg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.41 | SPEG | Ivone Leong Publications for gene: SPEG were set to 32925938; 33794647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.40 | SPEG | Ivone Leong Phenotypes for gene: SPEG were changed from Dilated cardiomyopathy; centronuclear myopathy to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.39 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 32925938; 33794647 Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy Review for gene: SPEG was set to GREEN Added comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy. Sources: Literature |
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