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  3. B9D2
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Ophthalmological 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

2 reviews

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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
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
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

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: B9D2 was added gene: B9D2 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome