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Possible mitochondrial disorder - nuclear genes v4.17 NDUFB7 Ida Ertmanska reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v4.16 NDUFB7 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Possible mitochondrial disorder - nuclear genes v4.16 NDUFB7 Ida Ertmanska Source Expert Review Green was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v3.119 NDUFB7 Arina Puzriakova Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.119 NDUFB7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Possible mitochondrial disorder - nuclear genes v3.119 NDUFB7 Arina Puzriakova Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: NDUFB7.
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed publications to: 40025060; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Possible mitochondrial disorder - nuclear genes v3.118 NDUFB7 Arina Puzriakova Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.117 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.
Possible mitochondrial disorder - nuclear genes v3.117 NDUFB7 Arina Puzriakova commented on gene: NDUFB7
Possible mitochondrial disorder - nuclear genes v3.117 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
Possible mitochondrial disorder - nuclear genes v3.116 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to
Possible mitochondrial disorder - nuclear genes v3.20 NDUFB7 Arina Puzriakova Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.19 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB7 Carl Fratter reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB7 Ivone Leong reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB7 Ivone Leong gene: NDUFB7 was added
gene: NDUFB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype