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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. |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |