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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