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Severe Paediatric Disorders v0.12 | TMEM126B | Louise Daugherty reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TMEM126B | Louise Daugherty Publications for gene TMEM126B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TMEM126B | Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM126B | Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM126B | Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM126B | Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM126B |
Louise Daugherty Mode of inheritance for gene TMEM126B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B |
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Severe Paediatric Disorders v0.7 | TMEM126B | Louise Daugherty Source Next Generation Children Project was added to TMEM126B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TMEM126B |
Louise Daugherty Source Expert Review Green was added to TMEM126B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TMEM126B |
Louise Daugherty gene: TMEM126B was added gene: TMEM126B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM126B was set to |