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  3. B9D1
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Renal Ciliopathies and Nephronophthisis

Gene: B9D1

Red List (low 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

Created: 21 May 2020, 2:43 a.m.
Last Modified: 21 May 2020, 2:43 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.73

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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

Created: 3 Jan 2020, 3:35 a.m.
Last Modified: 3 Jan 2020, 3:35 a.m.
Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 9, OMIM #614209
  • Joubert syndrome 27, OMIM #617120
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b9d1 has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 1

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

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: b9d1 has been classified as Red List (Low 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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: B9D1 was set to Unknown