Rare multisystem ciliopathy disorders
Gene: B9D2EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
PMID: 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
PMID: 26092869 - two further cases with Joubert syndrome reported from two different familiesCreated: 14 Jan 2021, 4:14 p.m. | Last Modified: 14 Jan 2021, 4:14 p.m.
Panel Version: 1.133
Alice Gardham (Genomics England)
Comment when marking as ready: Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 2:31 p.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, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Joubert syndrome 34, OMIM:614175
- Meckel syndrome 10, OMIM:614175
- Meckel syndrome, type 10, MONDO:0013609
- OMIM
- 611951
- Clinvar variants
- Variants in B9D2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Familial Neural Tube Defects
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Ductal plate malformation
- Neurological ciliopathies
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: B9D2 were set to 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; 26092869 - two further cases with Joubert syndrome reported from two different families
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B9D2 were changed from Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome; Joubert syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
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
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for B9D2 were set to Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome;Joubert syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D2 were set to 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; 26092869 - two further cases with Joubert syndrome reported from two different families
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D2 were set to 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.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for B9D2 were set to 21763481
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene B9D2 were set to Meckel syndrome 10, 614175;ciliopathies
Upload gene information
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene B9D2 were set to Meckel syndrome 10, 614175
Added New Source
Ellen McDonagh (Genomics England Curator)B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)B9D2 was created by ellenmcdonagh