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| Cardiomyopathy_Paediatric v1.300 | SDHAF1 | Zornitza Stark Marked gene: SDHAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.300 | SDHAF1 | Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.300 | SDHAF1 | Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial respiratory chain complex II deficiency, 252011 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.299 | SDHAF1 | Zornitza Stark Classified gene: SDHAF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.299 | SDHAF1 | Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.298 | SDHAF1 | Zornitza Stark reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.298 | SDHA | Zornitza Stark Marked gene: SDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.298 | SDHA | Zornitza Stark Gene: sdha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.298 | SDHA | Zornitza Stark Phenotypes for gene: SDHA were changed from Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642 to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.297 | SDHA | Zornitza Stark Publications for gene: SDHA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.296 | SDHA | Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20551992; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | SDHA | Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 19465911; 26642834; 22995659 Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011 |
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| Cardiomyopathy_Paediatric v0.0 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642 |
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