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  3. B9D1
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Intellectual disability

Gene: B9D1

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

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated individuals reported with Joubert syndrome, where intellectual disability or global developmental delay is part of the phenotype. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 17 Jul 2024, 2:34 p.m. | Last Modified: 17 Jul 2024, 2:34 p.m.
Panel Version: 6.54
PMID:32622957 reported a 24-year-old female with a clinical diagnosis of Joubert syndrome and a brain MRI demonstrating the molar tooth sign. She presented with global developmental delay as a child and required educational support through primary and high school. Cerebellar signs are present with a head tilt and rotational nystagmus and had dysarthria and hypometric saccades. This patient was identified with compound heterozygous variants (c.341G > A/ p.Arg114Gln and c.529G > C/ p.Asp177His). p.Arg114Gln variant was present in heterozygous state in seven individuals in gnomAD (not found in homozygous state), while p.Asp177His has not been observed in large reference population cohorts in gnomAD.
Created: 17 Jul 2024, 2:30 p.m. | Last Modified: 17 Jul 2024, 2:30 p.m.
Panel Version: 6.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 17 Jul 2024, 2:30 p.m.
Last Modified: 17 Jul 2024, 2:30 p.m.
Panel version: 6.52

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene has been promoted from Red to Amber. Mild ID was only seen in 1 case.
Created: 8 Oct 2020, 3:10 p.m. | Last Modified: 8 Oct 2020, 3:10 p.m.
Panel Version: 3.397
Created: 8 Oct 2020, 3:10 p.m.
Last Modified: 8 Oct 2020, 3:10 p.m.
Panel version: 3.397

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated individuals with Joubert syndrome and bi-allelic variants in this gene, plus one individual with a more severe Meckel phenotype described, overall supporting gene-disease association for a ciliopathy with CNS involvement. Intellectual disability is part of the phenotype of these conditions.
Created: 29 Jan 2020, 10:15 a.m. | Last Modified: 29 Jan 2020, 10:15 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209

Publications

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

Created: 29 Jan 2020, 10:15 a.m.
Last Modified: 29 Jan 2020, 10:15 a.m.
Panel version: 3.0

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97
Associated with phenotype in OMIM and as a probable G2P for Meckel syndrome 9 614209. At least 4 variants reported in three cases of Joubert syndrome 27 617120, mild intellectual impairement reported in one of these cases (PMID 24886560)
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 15 Dec 2017, 9:38 a.m.

Panel version: 8.97

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MECKEL SYNDROME 9

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:02 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: Awaiting confirmation with further families
Created: 3 Feb 2016, 11:57 a.m.
Created: 3 Feb 2016, 11:57 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: B9D1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to B9D1. Source Expert Review Green was added to B9D1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: b9d1 has been classified as Amber List (Moderate Evidence).

17 Jul 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: B9D1 were set to 21493627; 24886560; 25920555; 32622957

17 Jul 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: B9D1 were set to 24886560; 25920555; 21493627

17 Jul 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: B9D1.

14 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 614209; Joubert syndrome 27 617120 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: b9d1 has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: B9D1 were set to 24886560; 25920555

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene B9D1 was set to ['24886560', ' 25920555 ']

3 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

B9D1 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B9D1 was created by ellenmcdonagh