Renal ciliopathies
Gene: B9D1Comment on list classification: Insufficient evidence to dateCreated: 19 Dec 2016, 4:31 p.m.
Comment on list classification: Insufficient evidence to dateCreated: 19 Dec 2016, 4:31 p.m.
Insufficient evidence to dateCreated: 19 Dec 2016, 4:30 p.m.
Phenotypes
617120
Publications
Comment on list classification: There are four cases reported with either Joubert syndrome or Meckel syndrome, with variants in this gene. However two cases mention variants in other genes, and therefore multiple genes may contribute.Created: 12 Dec 2016, 11:53 a.m.
On current diagnostic panel; no positives to date. Some evidence from literature; mainly associated with Meckel-Gruber syndrome.Created: 15 Mar 2016, 11:17 a.m.
Phenotypes
Meckel-Gruber syndrome; Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
gene: B9D1 was added gene: B9D1 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services 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