Ciliopathies

Gene: B9D1

Amber List (moderate evidence)

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER
Created: 21 May 2020, 2:43 a.m. | Last Modified: 21 May 2020, 2:43 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Description: B9D1 belongs to a small family of proteins that also includes B9D2 (611951) and MKS1 (609883), and all 3 B9 domain-containing proteins associate with basal bodies and primary cilia in mammalian cells (Bialas et al., 2009). These proteins localize to the transition zone complex that functions within the cilium (Dowdle et al., 2011).

PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal.

PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable

PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant

Summary: 2 unrelated patients, AMBER.
Created: 20 May 2020, 4:44 a.m. | Last Modified: 20 May 2020, 4:44 a.m.
Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Meckel syndrome 9 614209; Joubert syndrome 27 617120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 9, MIM# 614209
  • Joubert syndrome 27, MIM# 617120
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b9d1 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120

21 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B9D1 were set to

21 May 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b9d1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B9D1 was added gene: B9D1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B9D1 was set to Unknown