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| Cardiomyopathy_Paediatric v1.77 | DTNA |
Zornitza Stark changed review comment from: PMID 38551768 reports a sinlge individual with a heterozygous DTNA missense variant (p.Gln201Arg) presenting with hypertrophic cardiomyopathy; PMID 29118297 reports another individual with a heterozygous DTNA missense variant (p.N49S) presenting with left ventricular noncompaction cardiomyopathy; a transgenic mouse model overexpressing p.N49S recapitulates LVNC‑like hyper‑trabeculation and dilated cardiomyopathy.; to: PMID 38551768 reports a sinlge individual with a heterozygous DTNA missense variant (p.Gln201Arg) presenting with hypertrophic cardiomyopathy; PMID 29118297 reports another individual with a heterozygous DTNA missense variant (p.N49S) presenting with left ventricular noncompaction cardiomyopathy; a transgenic mouse model overexpressing p.N49S recapitulates LVNC‑like hyper‑trabeculation and dilated cardiomyopathy. Note association with CHD is DISPUTED. |
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| Cardiomyopathy_Paediatric v1.77 | DTNA | Zornitza Stark Marked gene: DTNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.77 | DTNA | Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.77 | DTNA | Zornitza Stark Phenotypes for gene: DTNA were changed from Left ventricular noncompaction 1, with or without congenital heart defects, to Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.76 | DTNA | Zornitza Stark Publications for gene: DTNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.75 | DTNA | Zornitza Stark reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: None; Publications: 38551768, 29118297; Phenotypes: left ventricular noncompaction 1, MONDO:0011403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | DTNA | Gene migrated from ENSG00000134769 to ENSG00000134769 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | DTNA |
Zornitza Stark gene: DTNA was added gene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects, |
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