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Possible mitochondrial disorder, nuclear genes v3.95 SDHAF3 Arina Puzriakova Classified gene: SDHAF3 as Red List (low evidence)
Possible mitochondrial disorder, nuclear genes v3.95 SDHAF3 Arina Puzriakova Gene: sdhaf3 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder, nuclear genes v3.94 SDHAF4 Arina Puzriakova Classified gene: SDHAF4 as Red List (low evidence)
Possible mitochondrial disorder, nuclear genes v3.94 SDHAF4 Arina Puzriakova Gene: sdhaf4 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder, nuclear genes v2.5 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Tag Q3_22_NHS_review was removed from gene: SDHA.
Possible mitochondrial disorder, nuclear genes v2.5 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Possible mitochondrial disorder, nuclear genes v2.4 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v1.149 SDHA Arina Puzriakova Publications for gene: SDHA were set to
Possible mitochondrial disorder, nuclear genes v1.148 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000 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
Possible mitochondrial disorder, nuclear genes v1.105 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33471299, 10976639, 27683074; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259, Cardiomyopathy, dilated, 1GG, OMIM: 613642; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder, nuclear genes v1.97 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Tag Q3_22_NHS_review tag was added to gene: SDHA.
Possible mitochondrial disorder, nuclear genes v0.185 SDHAF1 Ellen McDonagh Marked gene: SDHAF1 as ready
Possible mitochondrial disorder, nuclear genes v0.185 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder, nuclear genes v0.134 SDHAF1 Carl Fratter reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465911, 22995659, 26642834; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.134 SDHAF4 Carl Fratter reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.134 SDHAF3 Carl Fratter reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.134 SDHAF2 Carl Fratter reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.133 SDHAF1 Ellen McDonagh Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHAF1
Publications for gene SDHAF1 were changed from to 22995659; 26642834; 19465911
Possible mitochondrial disorder, nuclear genes v0.121 SDHAF4 Ellen McDonagh Classified gene: SDHAF4 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.121 SDHAF4 Ellen McDonagh Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.120 SDHAF3 Ellen McDonagh Classified gene: SDHAF3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.120 SDHAF3 Ellen McDonagh Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.119 SDHAF2 Ellen McDonagh Classified gene: SDHAF2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.119 SDHAF2 Ellen McDonagh Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 SDHAF4 Ivone Leong reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.5 SDHAF3 Ivone Leong reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.5 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.5 SDHAF1 Ivone Leong reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.5 SDHA Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.3 SDHAF4 Ivone Leong gene: SDHAF4 was added
gene: SDHAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Possible mitochondrial disorder, nuclear genes v0.3 SDHAF3 Ivone Leong gene: SDHAF3 was added
gene: SDHAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Possible mitochondrial disorder, nuclear genes v0.3 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to Unknown
Phenotypes for gene: SDHAF2 were set to No OMIM phenotype
Possible mitochondrial disorder, nuclear genes v0.3 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Possible mitochondrial disorder, nuclear genes v0.3 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000