Skeletal dysplasia
Gene: B9D2Comment when marking as ready: Associated with phenotype in OMIM. Only one variants reportedCreated: 27 Jul 2016, 1:48 p.m.
Tier 2Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 10 614175
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: B9D2 were changed from Meckel syndrome 10 614175 to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for B9D2 were set to Meckel syndrome 10 614175
Mode of inheritance for B9D2 was changed to BIALLELIC, autosomal or pseudoautosomal
B9D2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
B9D2All sources for gene: B9D2 were removed
B9D2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
B9D2 was added to Unexplained skeletal dysplasiapanel. Sources:
B9D2 was created by sleigh