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Likely inborn error of metabolism v8.94 NDUFB7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Likely inborn error of metabolism v8.94 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism v8.93 NDUFB7 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB7.
Source Expert Review Green was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v7.16 NDUFB7 Arina Puzriakova Tag watchlist was removed from gene: NDUFB7.
Tag Q1_25_ promote_green tag was added to gene: NDUFB7.
Likely inborn error of metabolism v7.16 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Likely inborn error of metabolism v7.15 NDUFB7 Arina Puzriakova commented on gene: NDUFB7: PMID: 40025060 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Likely inborn error of metabolism v7.15 NDUFB7 Arina Puzriakova commented on gene: NDUFB7
Likely inborn error of metabolism v7.15 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to 33502047; 27626371
Likely inborn error of metabolism v4.18 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Likely inborn error of metabolism v2.124 NDUFB7 Sarah Leigh Added comment: Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)
Likely inborn error of metabolism v2.124 NDUFB7 Sarah Leigh Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype; Isolated complex I deficiency to Congenital lactic acidosis; hypertrophic cardiomyopathy
Likely inborn error of metabolism v2.123 NDUFB7 Sarah Leigh Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.122 NDUFB7 Sarah Leigh Tag watchlist tag was added to gene: NDUFB7.
Likely inborn error of metabolism v2.122 NDUFB7 Sarah Leigh Classified gene: NDUFB7 as Amber List (moderate evidence)
Likely inborn error of metabolism v2.122 NDUFB7 Sarah Leigh Added comment: Comment on list classification: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371).
Likely inborn error of metabolism v2.122 NDUFB7 Sarah Leigh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v2.121 NDUFB7 Sarah Leigh Publications for gene: NDUFB7 were set to 33502047; 27626371
Likely inborn error of metabolism v2.121 NDUFB7 Sarah Leigh Publications for gene: NDUFB7 were set to
Likely inborn error of metabolism v0.4 NDUFB7 Ellen McDonagh gene: NDUFB7 was added
gene: NDUFB7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype; Isolated complex I deficiency