Rare multisystem ciliopathy disorders
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
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for B9D1 were set to 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1); 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance)
Publications for B9D1 were set to 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1);21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance
Publications for B9D1 were set to 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1);21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance
Publications for B9D1 were set to 24886560 (2 cases with Joubert); 25920555
Publications for B9D1 were set to 24886560; 25920555
Publications for B9D1 were set to 24886560; 25920555
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Phenotypes for gene B9D1 were set to ?Meckel syndrome 9, 614209;ciliopathies
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene B9D1 were set to ?Meckel syndrome 9, 614209
B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
B9D1 was created by ellenmcdonagh