Polydactyly
Gene: B9D2

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

2 reviews

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 2:49 a.m.
Last Modified: 21 Jul 2020, 2:49 a.m.
Panel version: 0.36

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated individuals with JS and bi-allelic variants reported; single family with two affected individuals also reported with homozygous variant in this gene and more severe Meckel phenotype.
Created: 24 Nov 2019, 2:07 a.m. | Last Modified: 24 Nov 2019, 2:07 a.m.

Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175

Publications

Created: 24 Nov 2019, 2:07 a.m.
Last Modified: 24 Nov 2019, 2:07 a.m.
Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ panel version 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland
Victorian Clinical Genetics Services

Phenotypes

Joubert syndrome 34, MIM#614175
Meckel syndrome 10, MIM#614175

OMIM

611951

Clinvar variants

Variants in B9D2

Penetrance

None

Publications

Panels with this gene