| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM67 |
Ellen McDonagh Source PanelApp was added to TMEM67. Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67 Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM67 |
Ellen McDonagh gene: TMEM67 was added gene: TMEM67 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM67 was set to |
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