Rare multisystem ciliopathy disorders
Gene: B9D2PMID: 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
Comment when marking as ready: Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 2:31 p.m.
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
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
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
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for B9D2 were set to Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome;Joubert syndrome
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
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.
Publications for B9D2 were set to 21763481
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Phenotypes for gene B9D2 were set to Meckel syndrome 10, 614175;ciliopathies
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene B9D2 were set to Meckel syndrome 10, 614175
B9D2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
B9D2 was created by ellenmcdonagh