| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.463 | DMRT2 | Zornitza Stark Marked gene: DMRT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.463 | DMRT2 | Zornitza Stark Gene: dmrt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.463 | DMRT2 | Zornitza Stark Classified gene: DMRT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.463 | DMRT2 | Zornitza Stark Gene: dmrt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.462 | DMRT2 |
Krithika Murali gene: DMRT2 was added gene: DMRT2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292 Phenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related Review for gene: DMRT2 was set to AMBER Added comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. Sources: Literature |
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| Congenital Heart Defect v0.462 | DMRT2 |
Krithika Murali gene: DMRT2 was added gene: DMRT2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292 Phenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related Added comment: Overlapping features between the 2 unrelated patients and the mouse model include severe skeletal manifestations. Other overlapping features observed in the 2 reported patients include congenital heart defects and CAKUT. Sources: Literature |
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