Ciliopathies

Gene: B9D1

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

• 24886560
• 21493627
• 25920555

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

• PMID: 24886560
• 21493627
• 25920555