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| Cardiomyopathy_Paediatric v0.118 | MIB1 | Zornitza Stark Publications for gene: MIB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.117 | MIB1 | Zornitza Stark Classified gene: MIB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.117 | MIB1 | Zornitza Stark Gene: mib1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.116 | MIB1 | Zornitza Stark edited their review of gene: MIB1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.62 | MIB1 | Zornitza Stark Marked gene: MIB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.62 | MIB1 | Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.62 | MIB1 | Zornitza Stark Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, MIM# 615092; cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.61 | MIB1 | Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.61 | MIB1 | Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.60 | MIB1 | Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.60 | MIB1 | Ain Roesley edited their review of gene: MIB1: Changed publications: 30322850, 23314057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.60 | MIB1 | Ain Roesley reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | MIB1 |
Zornitza Stark gene: MIB1 was added gene: MIB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7 |
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