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Neurological ciliopathies v0.3 B9D1 Ellen McDonagh gene: B9D1 was added
gene: B9D1 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27
Neurological ciliopathies v0.3 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome