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| Childhood onset dystonia, chorea or related movement disorder v1.72 | B9D2 | Arina Puzriakova Publications for gene: B9D2 were set to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.71 | B9D2 | Arina Puzriakova Phenotypes for gene: B9D2 were changed from Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | B9D2 |
Ellen McDonagh Source PanelApp was added to B9D2. Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies for gene: B9D2 Publications for gene B9D2 were changed from to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | B9D2 |
Ellen McDonagh gene: B9D2 was added gene: B9D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: B9D2 was set to |
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