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| Congenital Heart Defect v0.349 | MAP3K7 | Zornitza Stark Marked gene: MAP3K7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.349 | MAP3K7 | Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.349 | MAP3K7 | Zornitza Stark Classified gene: MAP3K7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.349 | MAP3K7 | Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | MAP3K7 |
Emma Northrop gene: MAP3K7 was added gene: MAP3K7 was added to Congenital Heart Defect. Sources: Other Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K7 were set to PMID: 27426734; 29467388; 35730652; 27426733 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800; Frontometaphyseal dysplasia 2 (FMD2) MIM# 617137 Review for gene: MAP3K7 was set to GREEN Added comment: CSCF - primarily caused by loss of function variants. FMD2 - primarily caused by gain of function variants. PMID: 27426734 - Monoallelic missense and in-frame deletion variants were identified in the MAP3K7 gene in six individuals affected with CSCF from four unrelated families. All met the clinical feature criteria of CSCF, including skeletal and facial features, and cardiac defects (including VSD (1/6), ASD (1/6) and valve dysplasia (6/6)). One family with 3 affected individuals across 2 generations was reported. PMID: 29467388 - One case with a splice variant creating a new splice acceptor site causing an in-frame insertion of 2 amino acids. A heart ultrasound at birth revealed patent foramen ovale with left-right shunt and two small muscular ventricular septal defects, mitral and tricuspid valves dysplasia and mild, non-progressive aortic arch hypoplasia. PMID: 35730652 - 14 novel patients with CSCF + 2 with FMD2. 9/15 with Congenital Heart Defects (including the 2 cases with FMD2), 2/12 Ventricular septal defects, 1/13 Atrial septal defects, 4/14 Cardiomyopathy. CSCF cases include one family with 2 individuals across 2 generations. Sources: Other |
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