Activity

Filter

Cancel
Date Panel Item Activity
24 actions
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