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| Cardiomyopathy_Paediatric v1.167 | FASTKD2 | Zornitza Stark Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.167 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.167 | FASTKD2 | Zornitza Stark Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.166 | FASTKD2 | Zornitza Stark Publications for gene: FASTKD2 were set to 28499982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.165 | FASTKD2 | Zornitza Stark Classified gene: FASTKD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.165 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.141 | FASTKD2 |
Richard Lin changed review comment from: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors. PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr). PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient. Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.; to: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors. PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr). PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C variant (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient. Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported. |
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| Cardiomyopathy_Paediatric v1.141 | FASTKD2 |
Richard Lin changed review comment from: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, cardiac morphology was not specifically commented by the authors. PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr). PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient. Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported.; to: PMID 31944455 reports 3 unrelated families with biallelic loss-of-function FASTKD2 variants causing mitochondrial disease; one family presented with childhood‑onset hypertrophic cardiomyopathy. A zebrafish knockdown model showed a decreased heart rate, structural cardiac morphology was not specifically commented by the authors. PMID: 39094958 reports an adult diagnosed with hypertrophic cardiomyopathy diagnosed at age 37, with CKD, found to be homozygous for a FASTDK2 missense variant c.29G>C p.(Ser10Thr). PMID: 38111113 reports a 39 year old patient with cardiomyopathy and nephropathy and a FASTKD2: c.29G>C (zygosity unknown), with the same authors as PMID: 39094958. Presumed to be the same patient. Current evidence is insufficient for diagnostic grade classification for paediatric cardiomyopathy because only a single family with paediatric cardiomyopathy is reported. |
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| Cardiomyopathy_Paediatric v1.141 | FASTKD2 | Richard Lin reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: None; Publications: 31944455; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | FASTKD2 | Gene migrated from ENSG00000118246 to ENSG00000118246 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | FASTKD2 |
Zornitza Stark gene: FASTKD2 was added gene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 28499982 Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110 |
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