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| Severe Paediatric Disorders v0.12 | TMEM67 | Louise Daugherty reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | TMEM67 | Louise Daugherty Publications for gene TMEM67 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | TMEM67 | Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TMEM67 | Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | TMEM67 | Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TMEM67 | Louise Daugherty Added phenotypes ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550; Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361 for gene: TMEM67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | TMEM67 |
Louise Daugherty Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67 |
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| Severe Paediatric Disorders v0.7 | TMEM67 | Louise Daugherty Source Next Generation Children Project was added to TMEM67. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | TMEM67 |
Louise Daugherty Source Expert Review Green was added to TMEM67. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | TMEM67 |
Louise Daugherty gene: TMEM67 was added gene: TMEM67 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM67 was set to |
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