Intellectual disability
Gene: B9D2

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 11 Aug 2020, 5 p.m. | Last Modified: 11 Aug 2020, 5 p.m.

Panel Version: 3.244

Three variants were reported in two unrelated cases of Joubert syndrome 34, which includes intellectual impairment, together with supportive functional studies (PMID 21763481).
Created: 11 Aug 2020, 4:45 p.m. | Last Modified: 11 Aug 2020, 4:45 p.m.

Panel Version: 3.242

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in four unrelated cases. Three of the variants were reported in two unrelated cases of Joubert syndrome 34, which includes intellectual impairment and the remaining three variants were found in two unrelated fetuses with Meckel syndrome 10, with brain malformations.
Created: 11 Aug 2020, 4:34 p.m. | Last Modified: 11 Aug 2020, 4:34 p.m.

Panel Version: 3.241

Created: 11 Aug 2020, 4:34 p.m.
Last Modified: 11 Aug 2020, 4:34 p.m.
Panel version: 3.1510

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

Created: 29 Jan 2020, 10:17 a.m.

Panel version: 3.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Joubert syndrome 34, OMIM:614175
Meckel syndrome 10, OMIM:614175
Meckel syndrome, type 10, MONDO:0013609

OMIM

611951

Clinvar variants

Variants in B9D2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: B9D2.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to B9D2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B9D2 were changed from Joubert syndrome 34 614175; Meckel syndrome 10 614175 to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609

11 Aug 2020, Gel status: 2