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Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.5 NDUFB10 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB10.
Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.286 NDUFB10 Arina Puzriakova Classified gene: NDUFB10 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.286 NDUFB10 Arina Puzriakova Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.285 NDUFB10 Arina Puzriakova Mode of inheritance for gene: NDUFB10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.284 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to
Likely inborn error of metabolism - targeted testing not possible v2.283 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Likely inborn error of metabolism - targeted testing not possible v2.265 NDUFB10 Arina Puzriakova reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730, 32025618, 33169436; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.264 NDUFB10 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10.
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB10 Ellen McDonagh gene: NDUFB10 was added
gene: NDUFB10 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB10 was set to Unknown
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB1 Ellen McDonagh gene: NDUFB1 was added
gene: NDUFB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB11 Ellen McDonagh Added phenotypes histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency for gene: NDUFB11
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB11 Ellen McDonagh gene: NDUFB11 was added
gene: NDUFB11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency