Polydactyly
Gene: B9D1

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two unrelated individuals with JS and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described: however note one of the variants was a multi-gene deletion, and in addition the individual had a CEP290 likely path variant. None had polydactyly.
Created: 24 Nov 2019, 2 a.m. | Last Modified: 21 May 2020, 4:20 a.m.

Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209

Publications

Created: 24 Nov 2019, 2 a.m.
Last Modified: 21 May 2020, 4:20 a.m.
Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genetic Health Queensland
Victorian Clinical Genetics Services

Phenotypes

Joubert syndrome 27, MIM#617120
Meckel syndrome 9, MIM#614209

OMIM

614144

Clinvar variants

Variants in B9D1

Penetrance

None

Publications

Panels with this gene