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Severe Paediatric Disorders v0.12 | TMEM107 | Louise Daugherty reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TMEM107 | Louise Daugherty Publications for gene TMEM107 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TMEM107 | Louise Daugherty Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM107 | Louise Daugherty Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TMEM107 | Louise Daugherty Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM107 | Louise Daugherty Added phenotypes ?Joubert syndrome 29, 617562; Orofaciodigital syndrome XVI, 617563; Meckel syndrome 13, 617562 for gene: TMEM107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TMEM107 |
Louise Daugherty Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107 |
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Severe Paediatric Disorders v0.7 | TMEM107 | Louise Daugherty Source Next Generation Children Project was added to TMEM107. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TMEM107 |
Louise Daugherty Source Expert Review Green was added to TMEM107. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TMEM107 |
Louise Daugherty gene: TMEM107 was added gene: TMEM107 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM107 was set to |