Activity

Filter

Cancel
Date Panel Item Activity
99 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 Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
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 Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
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 SDHB Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorder with complex II deficiency v2.5 SDHA Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorder with complex II deficiency v2.5 SDHB Achchuthan Shanmugasundram commented on gene: SDHB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
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 v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2023-03-22
Mitochondrial disorder with complex II deficiency v2.2 Eleanor Williams Panel signed off version 2.0 has been removed
Mitochondrial disorder with complex II deficiency v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Mitochondrial disorder with complex II deficiency v2.0 Arina Puzriakova promoted panel to version 2.0
Mitochondrial disorder with complex II deficiency v1.11 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Tag Q3_22_NHS_review was removed from gene: SDHB.
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 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex II deficiency v1.11 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorder with complex II deficiency v1.10 SDHB Achchuthan Shanmugasundram Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v1.7 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from No OMIM phenotype to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Mitochondrial disorder with complex II deficiency v1.6 SDHB Arina Puzriakova Publications for gene: SDHB were set to 22972948
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 v1.4 SDHB Arina Puzriakova reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948, 32124427, 26925370, 27604842; Phenotypes: Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224; Mode of inheritance: 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 v1.3 SDHB Arina Puzriakova Tag Q3_22_rating tag was added to gene: SDHB.
Tag Q3_22_NHS_review tag was added to gene: SDHB.
Mitochondrial disorder with complex II deficiency v1.3 Sarah Leigh Panel version has been signed off
Mitochondrial disorder with complex II deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex II deficiency v0.18 Ellen McDonagh List of related panels changed from to R354
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex II deficiency v0.17 SDHB Ivone Leong changed review comment from: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.; to: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHB; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Marked gene: SDHD as ready
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Classified gene: SDHD as Green List (high evidence)
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (three different variants) with functional evidence.
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.15 SDHD Ellen McDonagh Publications for gene: SDHD were set to
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Marked gene: SDHC as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Gene: sdhc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Marked gene: SDHB as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Gene: sdhb has been classified as Amber List (Moderate Evidence).
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 Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
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 Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
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 Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
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 Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. At least 3 families reported.
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 SDHD Carl Fratter reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24367056, 26008905; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.12 SDHC Carl Fratter reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHB Carl Fratter reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v0.10 SDHB Anna de Burca Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.10 SDHB Anna de Burca Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Classified gene: SDHC as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.9 SDHC Anna de Burca Gene: sdhc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Classified gene: SDHD as Amber List (moderate evidence)
Mitochondrial disorder with complex II deficiency v0.8 SDHD Anna de Burca Gene: sdhd 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 SDHD Ivone Leong reviewed gene: SDHD: 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 SDHC Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.3 SDHB Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Mitochondrial disorder with complex II deficiency v0.2 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to Unknown
Phenotypes for gene: SDHC were set to No OMIM phenotype
Mitochondrial disorder with complex II deficiency v0.2 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 22972948
Phenotypes for gene: SDHB were set to No OMIM phenotype
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
Mitochondrial disorder with complex II deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex II deficiency
Set panel types to: GMS Rare Disease