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  2. Renal ciliopathies
  3. B9D1
STRs in panel
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Renal ciliopathies

Gene: B9D1

Red List (low evidence)
B9D1 (B9 domain containing 1)
EnsemblGeneIds (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 date
Created: 19 Dec 2016, 4:31 p.m.
Comment on list classification: Insufficient evidence to date
Created: 19 Dec 2016, 4:31 p.m.
Insufficient evidence to date
Created: 19 Dec 2016, 4:30 p.m.

Phenotypes
617120

Publications

Created: 19 Dec 2016, 4:30 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.388

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.
Created: 12 Dec 2016, 11:53 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.356

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, 11:17 a.m.

Phenotypes
Meckel-Gruber syndrome; Joubert syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2016, 11:17 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
None
Publications
  • 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance)
  • 24886560 (2 cases with Joubert)
  • 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)
Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 1

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

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: B9D1 was added gene: B9D1 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27