Activity
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20 actions
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFB10 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10. Tag Q3_22_NHS_review was removed from gene: NDUFB10. |
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| Possible mitochondrial disorder, nuclear genes v2.5 | NDUFB10 | Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v2.4 | NDUFB10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder, nuclear genes v1.125 | NDUFB10 | Arina Puzriakova Publications for gene: NDUFB10 were set to 28040730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.124 | NDUFB10 | Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.99 | 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; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.95 | NDUFB10 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10. Tag Q3_22_NHS_review tag was added to gene: NDUFB10. |
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| Possible mitochondrial disorder, nuclear genes v0.134 | NDUFB10 | Carl Fratter reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: Mitochondrial complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.134 | NDUFB1 | Carl Fratter reviewed gene: NDUFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.55 | NDUFB10 | Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.55 | NDUFB10 | Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.54 | NDUFB1 | Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.54 | NDUFB1 | 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 v0.54 | NDUFB1 | Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | NDUFB11 | Ivone Leong reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | NDUFB10 | Ivone Leong reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | NDUFB1 | Ivone Leong reviewed gene: NDUFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.2 | NDUFB11 |
Ivone Leong gene: NDUFB11 was added gene: NDUFB11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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 ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952 |
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| Possible mitochondrial disorder, nuclear genes v0.2 | NDUFB10 |
Ivone Leong gene: NDUFB10 was added gene: NDUFB10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB10 were set to 28040730 Phenotypes for gene: NDUFB10 were set to No OMIM phenotype |
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| Possible mitochondrial disorder, nuclear genes v0.2 | NDUFB1 |
Ivone Leong gene: NDUFB1 was added gene: NDUFB1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB1 was set to Unknown Phenotypes for gene: NDUFB1 were set to No OMIM phenotype |
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