Rare multisystem ciliopathy disorders
Gene: B9D1EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels
3 reviews
Richard Scott (Genomics England Curator)
Comment 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
Ellen McDonagh (Genomics England Curator)
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.
Penny Clouston (Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
- Tags
- OMIM
- 614144
- Clinvar variants
- Variants in B9D1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Familial Neural Tube Defects
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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)
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D1 were set to 24886560 (2 cases with Joubert); 25920555
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D1 were set to 24886560; 25920555
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D1 were set to 24886560; 25920555
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene B9D1 were set to ?Meckel syndrome 9, 614209;ciliopathies
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene B9D1 were set to ?Meckel syndrome 9, 614209
Added New Source
Ellen McDonagh (Genomics England Curator)B9D1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)B9D1 was created by ellenmcdonagh