Activity
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7 actions
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| Paediatric or syndromic cardiomyopathy v6.7 | MYZAP | Achchuthan Shanmugasundram Tag Q4_24_promote_green was removed from gene: MYZAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.7 | MYZAP | Achchuthan Shanmugasundram reviewed gene: MYZAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.6 | MYZAP |
Achchuthan Shanmugasundram Source NHS GMS was added to MYZAP. Source Expert Review Green was added to MYZAP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v6.5 | MYZAP |
Eleanor Williams commented on gene: MYZAP: Copied this gene from R132 Dilated and arrhythmogenic cardiomyopathy since NHS GMS reviewers suggest that it is more suited to be on the R135 Paediatric or syndromic cardiomyopathy panel. Note the MYZAP gene is part of the GRINL1A complex transcription unit, or GCOM1 gene, which also includes the downstream POLR2M gene. Helio et al. (2021) (PMID: 34899865) - 2 Finnish families with different homozygous variants in GCOM1 in affected individuals. Probands had either DCM or arrhythmogenic right ventricular cardiomyopathy (ARVC). Note in Family 1, one family member without the variant had DCM secondary to lymphocytic myocarditis. Age at diagnosis ranged from 24 to 41. Maver et al. (2022) (PMID: 35840178) - 2 Slovenian brothers affected by severe DCM with onset at ages 14 and 16 years. Both had a homozygous premature termination variant in MYZAP. Ochoa et al. (2024) (PMID: 38436102) - 2 sisters of Spanish ancestry with compound heterozygous variants in MYZAP and a severe form of DCM. Neither patient had extracardiac features. Both were diagnosed in their early 30s. |
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| Paediatric or syndromic cardiomyopathy v6.5 | MYZAP |
Eleanor Williams Tag Q2_24_promote_green was removed from gene: MYZAP. Tag Q4_24_promote_green tag was added to gene: MYZAP. |
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| Paediatric or syndromic cardiomyopathy v6.5 | MYZAP | Eleanor Williams Entity copied from Dilated and arrhythmogenic cardiomyopathy v2.36 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.5 | MYZAP |
Eleanor Williams gene: MYZAP was added gene: MYZAP was added to Paediatric or syndromic cardiomyopathy. Sources: Other,Expert Review Amber Q2_24_promote_green tags were added to gene: MYZAP. Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627; 24698889 Phenotypes for gene: MYZAP were set to Dilated cardiomyopathy, MONDO:0005021; Cardiomyopathy, dilated, 2K, OMIM:620894 Penetrance for gene: MYZAP were set to unknown Mode of pathogenicity for gene: MYZAP was set to Other |
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