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| Cardiomyopathy_Paediatric v0.154 | ASNA1 |
Naomi Baker gene: ASNA1 was added gene: ASNA1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNA1 were set to 31461301; 16797549 Phenotypes for gene: ASNA1 were set to Dilated cardiomyopathy, MONDO:0001644, ASNA1-related Review for gene: ASNA1 was set to RED Added comment: Two siblings reported with biallelic variants - there were two variants on the paternal allele (c.867C>G p.(Cys289Trp) and c.913C>T p.(Gln305*)) and one variant on the maternal allele (c.488T>C p.(Val163Ala)). Unaffected sibling was heterozygous for maternal allele. Western blotting demonstrated reduced protein expression. Knockout of asna1 in zebrafish mode resulted in cardiac defects and early lethality. The Asna1 knockout mice displayed early embryonic lethality, consistent with a role of Asna1 in early embryonic development. Sources: Literature |
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| Cardiomyopathy_Paediatric v0.62 | MIB1 |
Ain Roesley changed review comment from: PMID: 30322850 4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs) Only W271G and the fs demonstrated reduced NOTCh signaling Mutant zebrafish were evaluated for degree of malformation Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real NO association with DCM by clingen; to: CHD: PMID: 30322850 4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs) Only W271G and the fs demonstrated reduced NOTCh signaling Mutant zebrafish were evaluated for degree of malformation Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real NO association with DCM by clingen |
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| Cardiomyopathy_Paediatric v0.60 | MIB1 |
Ain Roesley changed review comment from: PMID: 30322850 4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs) Only W271G and the fs demonstrated reduced NOTCh signaling Mutant zebrafish were evaluated for degree of malformation Associated with LVNC disputed by clingen NO association with DCM by clingen; to: PMID: 30322850 4x probands - all missense except frameshift. All absent in gnomAD except for Ser520Arg (5 hets, 0 homs) Only W271G and the fs demonstrated reduced NOTCh signaling Mutant zebrafish were evaluated for degree of malformation Association with LVNC disputed by clingen - 2 variants reported in PMID: 23314057 however the missense has 45 hets and the nonsense has 13 hets. Clingen also pointed out that there's too many carriers of LoF variants in gnomAD for gene association to be real NO association with DCM by clingen |
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| Cardiomyopathy_Paediatric v0.8 | BRAF | Zornitza Stark Marked gene: BRAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.8 | BRAF | Zornitza Stark Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.8 | BRAF | Zornitza Stark Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 to Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 19206169; 21396583 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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