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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