GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: B9D1

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Neither gene nor 614209 listed in SD nosology paper. Single report in OMIM of a fetus with shortened limbs and polydactyly - also had a variant in CEP290. Association unclear. Romani et al 2014 report 2 individuals with mild Joubert phenotype (no polydactyly or orofacial/skeletal features). Association with SD still unclear.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 9 614209

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS

Phenotypes

Meckel syndrome 9 614209

OMIM

614144

Clinvar variants

Variants in B9D1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: B9D1 was added gene: B9D1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to Meckel syndrome 9 614209

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: B9D1