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Likely inborn error of metabolism v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Likely inborn error of metabolism v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v3.5 NDUFA13 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13.
Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.278 NDUFA13 Arina Puzriakova Classified gene: NDUFA13 as Amber List (moderate evidence)
Likely inborn error of metabolism v2.278 NDUFA13 Arina Puzriakova Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v2.277 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Likely inborn error of metabolism v2.276 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006
Likely inborn error of metabolism v2.275 NDUFA12 Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Likely inborn error of metabolism v2.274 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism v2.265 NDUFA13 Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.264 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Likely inborn error of metabolism v2.229 NDUFA12 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFA12.
Likely inborn error of metabolism v2.229 NDUFA12 Sarah Leigh commented on gene: NDUFA12: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism v2.229 NDUFA12 Ivone Leong Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v2.120 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Likely inborn error of metabolism v2.119 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism v2.119 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism v2.118 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism v2.118 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism v2.117 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 618244 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Likely inborn error of metabolism v2.117 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308
Likely inborn error of metabolism v2.116 NDUFA12 Sarah Leigh edited their review of gene: NDUFA12: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in five unrelated cases, together with supportive studies. Phenotypic variability was evident in the cases reported (PMID: 21617257; 33715266).; Changed rating: GREEN
Likely inborn error of metabolism v2.116 NDUFA12 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFA12.
Likely inborn error of metabolism v2.116 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism v2.116 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.373 NDUFA13 Catherine Snow reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v1.373 NDUFA13 Catherine Snow Publications for gene: NDUFA13 were set to
Likely inborn error of metabolism v1.307 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 27604308
Likely inborn error of metabolism v1.306 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from Leigh syndrome due to mitochondrial complex 1 deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Isolated complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 23 618244
Likely inborn error of metabolism v1.305 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.305 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.305 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.305 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.54 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 27604308
Likely inborn error of metabolism v1.53 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Likely inborn error of metabolism v1.53 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism v1.47 NDUFA12 Ivone Leong Source NHS GMS was added to NDUFA12.
Source London North GLH was added to NDUFA12.
Likely inborn error of metabolism v1.47 NDUFA11 Ivone Leong Source NHS GMS was added to NDUFA11.
Source London North GLH was added to NDUFA11.
Likely inborn error of metabolism v1.47 NDUFA10 Ivone Leong Source NHS GMS was added to NDUFA10.
Source London North GLH was added to NDUFA10.
Likely inborn error of metabolism v1.47 NDUFA1 Ivone Leong Source NHS GMS was added to NDUFA1.
Source London North GLH was added to NDUFA1.
Likely inborn error of metabolism v0.4 NDUFA1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA13 Ellen McDonagh gene: NDUFA13 was added
gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA12 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency, 256000; Isolated complex I deficiency for gene: NDUFA12
Likely inborn error of metabolism v0.4 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 27604308
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism v0.4 NDUFA11 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA11
Publications for gene NDUFA11 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA11 Ellen McDonagh gene: NDUFA11 was added
gene: NDUFA11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA10 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFA10
Likely inborn error of metabolism v0.4 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 27604308
Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency