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Intellectual disability

Gene: ALG9

Green List (high evidence)
ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:02 p.m. | Last Modified: 20 Oct 2020, 3:02 p.m.
Panel Version: 3.474
Created: 20 Oct 2020, 3:02 p.m.
Last Modified: 20 Oct 2020, 3:02 p.m.
Panel version: 3.474

Rebecca Foulger (Genomics England curator)

Comment on list classification: As highlighted by Zornitza Stark, since the last curation review, a number of papers have been published on the ALG9 phenotype, including PMID:26453364 and PMID:28932688 who review the literature and report additional cases. At least 6-7 (of 10/11) patients have developmental delay. Therefore sufficient cases to support causation and have updated rating from Red to Green.
Created: 7 May 2020, 2:27 p.m. | Last Modified: 7 May 2020, 2:27 p.m.
Panel Version: 3.38
PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants (including the 4 new patients reported by PMID:26453364). They also report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had seizures and developmental delay. She had a homozygous variant in ALG9: p.Tyr287Cys.
Created: 7 May 2020, 2:21 p.m. | Last Modified: 7 May 2020, 2:21 p.m.
Panel Version: 3.36
PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. 6/10 patients had developmental disability including the index patient (IV:5), a 6 year old girl with global DD, skeletal dysplasia, epilepsy, facial dysmorphisms amongst her phenotypes. The three affected cousins had similar phenotypes.
Created: 7 May 2020, 1:55 p.m. | Last Modified: 7 May 2020, 2:17 p.m.
Panel Version: 3.36
Created: 7 May 2020, 1:55 p.m.
Last Modified: 7 May 2020, 2:17 p.m.
Panel version: 3.36

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

Created: 28 Jan 2020, 9:55 a.m.
Last Modified: 28 Jan 2020, 9:55 a.m.
Panel version: 3.0

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALG9-CDG (CDG-IL)

Publications

  • 0

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

Panel version: 0

Sarah Leigh (Genomics England Curator)

Red List (low 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
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

Created: 31 Oct 2017, 9:57 a.m.

Panel version: 3.1510

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:01 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

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

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay
  • Congenital disorder of glycosylation, type Il 608776
  • Gillessen-Kaesbach-Nishimura syndrome 263210
OMIM
606941
Clinvar variants
Variants in ALG9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ALG9.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ALG9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: alg9 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ALG9.

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: alg9 has been classified as Green List (High Evidence).

7 May 2020, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210 to Developmental delay; Congenital disorder of glycosylation, type Il 608776; Gillessen-Kaesbach-Nishimura syndrome 263210

7 May 2020, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ALG9 were set to 15945070; 15148656

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

Created

Ellen McDonagh (Genomics England Curator)

ALG9 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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