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Intellectual disability

Gene: B9D1

Amber List (moderate evidence)

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

6 reviews

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

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MECKEL SYNDROME 9

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

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

History Filter Activity

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