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Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorders v3.5 SDHA Achchuthan Shanmugasundram Source NHS GMS was added to SDHA.
Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.167 SDHA Arina Puzriakova Publications for gene: SDHA were set to
Mitochondrial disorders v2.166 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
Mitochondrial disorders v2.123 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683074, 10976639, 33471299; Phenotypes: Cardiomyopathy, dilated, 1GG, OMIM: 613642, Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.122 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Mitochondrial disorders v2.109 SDHAF4 Arina Puzriakova commented on gene: SDHAF4
Mitochondrial disorders v2.109 SDHAF3 Arina Puzriakova commented on gene: SDHAF3
Mitochondrial disorders v2.108 SDHAF4 Arina Puzriakova Source Expert Review Red was added to SDHAF4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 SDHAF3 Arina Puzriakova Source Expert Review Red was added to SDHAF3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.5 SDHAF4 Zornitza Stark reviewed gene: SDHAF4: Rating: RED; Mode of pathogenicity: None; Publications: 24954416; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 SDHAF3 Zornitza Stark reviewed gene: SDHAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.412 SDHAF4 Sarah Leigh reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SDHAF3 Sarah Leigh reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 SDHAF4 Sarah Leigh gene: SDHAF4 was added
gene: SDHAF4 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SDHAF3 Sarah Leigh gene: SDHAF3 was added
gene: SDHAF3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Mitochondrial disorders v1.355 SDHAF1 Sarah Leigh Publications for gene: SDHAF1 were set to
Mitochondrial disorders v1.354 SDHAF1 Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, 252011
Mitochondrial disorders v1.353 SDHAF1 Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency
Mitochondrial disorders v1.352 SDHAF1 Sarah Leigh Classified gene: SDHAF1 as Green List (high evidence)
Mitochondrial disorders v1.352 SDHAF1 Sarah Leigh Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.293 SDHAF1 Sarah Leigh Source NHS GMS was added to SDHAF1.
Source Expert Review Green was added to SDHAF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.274 SDHAF2 Ivone Leong commented on gene: SDHAF2
Mitochondrial disorders SDHAF2 Zornitza Stark reviewed gene: SDHAF2