| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v2.12 | MAP3K7 | Zornitza Stark Marked gene: MAP3K7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.12 | MAP3K7 | Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.12 | MAP3K7 | Zornitza Stark Phenotypes for gene: MAP3K7 were changed from Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome to Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.11 | MAP3K7 | Zornitza Stark Classified gene: MAP3K7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.11 | MAP3K7 | Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.10 | MAP3K7 | Carlos Smith-Diaz reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: 35730652, 40814318, 40909427, 35606766; Phenotypes: Dilated cardiomyopathy, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.10 | MAP3K7 | Carlos Smith-Diaz Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v2.10 | MAP3K7 |
Carlos Smith-Diaz gene: MAP3K7 was added gene: MAP3K7 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K7 were set to 35730652; 40814318; 40909427; 35606766; https://doi.org/10.64898/2026.09.02.26361780 Phenotypes for gene: MAP3K7 were set to Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome Penetrance for gene: MAP3K7 were set to unknown Review for gene: MAP3K7 was set to GREEN Added comment: Loss-of-function (LoF) variants in MAP3K7 cause cardiospondylocarpofacial syndrome (CSCF) a rare autosomal dominant developmental disorder comprising craniofacial, skeletal and congenital heart defects. Dilated cardiomyopathy (DCM) is sometimes observed in patients with a syndromic CSCF presentation (van Woerden et al. 2022, PMID: 35730652; Das et al. 2025, PMID: 40814318; Yan et al. 2025, PMID: 40909427, Schuermans et al. 2022, PMID: 35606766). Recently, MAP3K7 variant specific LoF has also been shown to cause primary DCM in patients with subtle extracardiac features, suggesting that the clinical spectrum of MAP3K7 LoF ranges from classical CSCF to presentations characterised predominantly by DCM. Crucially, one rare LoF variant, c.374A>G, p.(Tyr125Cys), segregated to nine genotype-positive individuals with familial DCM. Although no family members had previously been recognised as syndromic, targeted clinical genetics assessment identified subtle craniofacial features in several affected individuals that overlapped with the CSCF spectrum. MAP3K7 loss-of-function has been observed to cause both paediatric and adult-onset DCM and causative variants include missense variants and an in-frame deletion, within the kinase-domain, that decrease kinase activity (https://doi.org/10.64898/2026.09.02.26361780). There is currently no reported evidence to suggest that DCM falls within the gain-of-function spectrum of MAP3K7-related disease (i.e., frontometaphyseal dysplasia). It is also currently unclear whether variants causing reduced gene dosage (i.e., NMD-compliant truncating variants) cause DCM. Sources: Literature |
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