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Neurological ciliopathies

Gene: B9D2

Green List (high evidence)
B9D2 (B9 domain containing 2)
EnsemblGeneIds (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 families
Created: 14 Jan 2021, 4:19 p.m. | Last Modified: 14 Jan 2021, 4:19 p.m.
Panel Version: 1.12
Created: 14 Jan 2021, 4:19 p.m.
Last Modified: 14 Jan 2021, 4:19 p.m.
Panel version: 1.12

Alice Gardham (Genomics England)

Comment when marking as ready: Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 2:31 p.m.
Created: 19 Jan 2017, 2:31 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.395

Penny Clouston (Oxford)

Red List (low evidence)

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

Created: 15 Mar 2016, 1:33 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
None
Publications
  • 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
Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: B9D2 was added gene: B9D2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal 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 set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome