Activity

Filter

Cancel
Date Panel Item Activity
33 actions
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NDUFA12.
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders 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)
Mitochondrial disorders v3.5 NDUFA12 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA12.
Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v2.137 NDUFA13 Arina Puzriakova Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorders v2.137 NDUFA13 Arina Puzriakova Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.136 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Mitochondrial disorders v2.135 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006
Mitochondrial disorders v2.134 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
Mitochondrial disorders v2.133 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 33715266
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.122 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Mitochondrial disorders v2.27 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
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.26 NDUFA12 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFA12.
Mitochondrial disorders v2.26 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; ?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
Mitochondrial disorders v2.25 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disorders v2.24 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.8 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: None; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.464 NDUFA12 Sarah Leigh Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong commented on gene: NDUFA13: As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong Publications for gene: NDUFA13 were set to
Mitochondrial disorders v1.263 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; {Thyroid carcinoma, Hurthle cell}, 607464; Mitochondrial Diseases to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong commented on gene: NDUFA12: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is only one case (PMID: 21617257) of a Pakistani patient with a variant in this gene who has complex I deficiency type 23 manifesting as Leigh syndrome. Therefore, this gene will remain a red gene until further evidence is available.
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong Publications for gene: NDUFA12 were set to
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 to Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Mitochondrial disorders v1.153 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to
Mitochondrial disorders v1.152 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.
Mitochondrial disorders v1.152 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)