Activity

Filter

Cancel
Date Panel Item Activity
48 actions
Mitochondrial disorder with complex II deficiency v2.10 SDHAF3 Arina Puzriakova Classified gene: SDHAF3 as Red List (low evidence)
Mitochondrial disorder with complex II deficiency v2.10 SDHAF3 Arina Puzriakova Gene: sdhaf3 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex II deficiency v2.9 SDHAF4 Arina Puzriakova Classified gene: SDHAF4 as Red List (low evidence)
Mitochondrial disorder with complex II deficiency v2.9 SDHAF4 Arina Puzriakova Gene: sdhaf4 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex II deficiency v2.6 SDHA Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorder with complex II deficiency v2.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA: Test
Mitochondrial disorder with complex II deficiency v2.5 SDHA Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorder with complex II deficiency v2.5 SDHA Achchuthan Shanmugasundram commented on gene: SDHA: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Mitochondrial disorder with complex II deficiency v1.11 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Tag Q3_22_NHS_review was removed from gene: SDHA.
Mitochondrial disorder with complex II deficiency v1.11 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorder with complex II deficiency v1.10 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v1.9 SDHA Arina Puzriakova Publications for gene: SDHA were set to
Mitochondrial disorder with complex II deficiency v1.8 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
Mitochondrial disorder with complex II deficiency v1.5 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
Mitochondrial disorder with complex II deficiency v1.3 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Tag Q3_22_NHS_review tag was added to gene: SDHA.
Mitochondrial disorder with complex II deficiency v0.14 SDHAF4 Ellen McDonagh Marked gene: SDHAF4 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF4 Ellen McDonagh Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF3 Ellen McDonagh Marked gene: SDHAF3 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF3 Ellen McDonagh Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF2 Ellen McDonagh Marked gene: SDHAF2 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF2 Ellen McDonagh Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Marked gene: SDHAF1 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Classified gene: SDHAF1 as Green List (high evidence)
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.13 SDHAF1 Ellen McDonagh Publications for gene: SDHAF1 were set to
Mitochondrial disorder with complex II deficiency v0.12 SDHAF4 Carl Fratter reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHAF3 Carl Fratter reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHAF2 Carl Fratter reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 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
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Classified gene: SDHAF4 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.11 SDHAF4 Anna de Burca Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Classified gene: SDHAF3 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.7 SDHAF3 Anna de Burca Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Classified gene: SDHAF2 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.6 SDHAF2 Anna de Burca Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Classified gene: SDHAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.5 SDHAF1 Anna de Burca Gene: sdhaf1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.3 SDHAF4 Ivone Leong reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHAF3 Ivone Leong reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 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
Mitochondrial disorder with complex II deficiency v0.3 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
Mitochondrial disorder with complex II deficiency v0.2 SDHAF4 Ivone Leong gene: SDHAF4 was added
gene: SDHAF4 was added to Mitochondrial disorder with complex II deficiency. 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
Mitochondrial disorder with complex II deficiency v0.2 SDHAF3 Ivone Leong gene: SDHAF3 was added
gene: SDHAF3 was added to Mitochondrial disorder with complex II deficiency. 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
Mitochondrial disorder with complex II deficiency v0.2 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Mitochondrial disorder with complex II deficiency. 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
Mitochondrial disorder with complex II deficiency v0.2 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Mitochondrial disorder with complex II deficiency. 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
Mitochondrial disorder with complex II deficiency v0.2 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Mitochondrial disorder with complex II deficiency. 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