Renal Ciliopathies and Nephronophthisis
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
No renal phenotype reported.Created: 3 Jan 2020, 3:35 a.m. | Last Modified: 3 Jan 2020, 3:35 a.m.
Panel Version: 0.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Gene: b9d1 has been classified as Red List (Low Evidence).
Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120 to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: b9d1 has been classified as Red List (Low Evidence).
gene: B9D1 was added gene: B9D1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: B9D1 was set to Unknown