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  3. B9D2
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Renal Ciliopathies and Nephronophthisis

Gene: B9D2

Amber List (moderate evidence)
B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two fetuses reported with MKS phenotype, otherwise gene is primarily associated with Joubert syndrome.
Created: 7 Jul 2021, 10:06 a.m. | Last Modified: 7 Jul 2021, 10:06 a.m.
Panel Version: 0.195

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 10, MIM# 614175

Publications

Created: 7 Jul 2021, 10:06 a.m.
Last Modified: 7 Jul 2021, 10:06 a.m.
Panel version: 0.195

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 10, MIM# 614175
OMIM
611951
Clinvar variants
Variants in B9D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b9d2 has been classified as Amber List (Moderate Evidence).

7 Jul 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B9D2 were changed from to Meckel syndrome 10, MIM# 614175

7 Jul 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B9D2 were set to

7 Jul 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b9d2 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: B9D2 was added gene: B9D2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: B9D2 was set to Unknown