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Intellectual disability

Gene: ALG9

Red List (low evidence)

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 14 panels

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 patients from 7 families reported reviewed in this publication. DD/ID is part of the phenotype.
Created: 28 Jan 2020, 9:55 a.m. | Last Modified: 28 Jan 2020, 9:55 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Il, MIM#608776

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALG9-CDG (CDG-IL)

Publications

  • 0

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported, but intellectual disability not specifically associated with variants in this gene
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient evidence currently
Created: 29 Jan 2016, 5:36 p.m.

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ALG9.

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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ALG9 was set to ['15945070', ' 15148656']

29 Jan 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).

29 Jan 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)

ALG9 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALG9 was created by ellenmcdonagh