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Intellectual disability

Gene: B9D2

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: b9d2 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: B9D2.

11 Aug 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: B9D2 were changed from Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175 to Joubert syndrome 34 614175; Meckel syndrome 10 614175

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: b9d2 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: B9D2 were set to 26092869; 21763481

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