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Mitochondrial disorder with complex I deficiency v2.3 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Tag Q3_22_NHS_review was removed from gene: NDUFB10.
Mitochondrial disorder with complex I deficiency v2.3 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.2 NDUFB10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v1.28 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to 28040730
Mitochondrial disorder with complex I deficiency v1.27 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Mitochondrial disorder with complex I deficiency v1.17 NDUFB10 Arina Puzriakova commented on gene: NDUFB10: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Mitochondrial disorder with complex I deficiency v1.16 NDUFB10 Arina Puzriakova reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730, 32025618, 33169436; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v1.15 NDUFB10 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10.
Tag Q3_22_NHS_review tag was added to gene: NDUFB10.
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Marked gene: NDUFB10 as ready
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Marked gene: NDUFB1 as ready
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: 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 I deficiency v0.53 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.36 NDUFB10 Carl Fratter reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: Mitochondrial complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFB1 Carl Fratter reviewed gene: NDUFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.3 NDUFB11 Ivone Leong reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex I deficiency v0.3 NDUFB10 Ivone Leong reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFB1 Ivone Leong reviewed gene: NDUFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.2 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Mitochondrial disorder with complex I deficiency v0.2 NDUFB10 Ivone Leong gene: NDUFB10 was added
gene: NDUFB10 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype
Mitochondrial disorder with complex I deficiency v0.2 NDUFB1 Ivone Leong gene: NDUFB1 was added
gene: NDUFB1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype