Ciliopathies
Gene: B9D1
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, AMBERCreated: 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
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
Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Publications for gene: B9D1 were set to
Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: b9d1 has been classified as Amber List (Moderate Evidence).
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