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Intellectual disability

Gene: B9D2

No list

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 15 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated individuals with Joubert syndrome and bi-allelic variants reported; single family with two affected individuals also reported with homozygous variant in this gene and more severe Meckel phenotype, overall supporting gene-disease association for a ciliopathy with CNS involvement. ID is part of the phenotype of these conditions.
Sources: Expert list
Created: 29 Jan 2020, 10:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

29 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: B9D2 was added gene: B9D2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 26092869; 21763481 Phenotypes for gene: B9D2 were set to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175 Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic