Cystic kidney disease

Gene: ALG9

Green List (high evidence)

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 15 panels

4 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 p.m. | Last Modified: 20 Oct 2020, 3 p.m.
Panel Version: 2.19

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI to match review by Eleanor Williams.
Created: 7 May 2020, 2:36 p.m. | Last Modified: 7 May 2020, 2:36 p.m.
Panel Version: 2.5

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 7 Mar 2022, 3:39 p.m. | Last Modified: 7 Mar 2022, 3:39 p.m.
Panel Version: 2.33
Associated with Gillessen-Kaesbach-Nishimura syndrome, 263210 (AR) in OMIM in which Polycystic kidneys is listed as a clinical feature.

PMID: 31395617 - Besse et al 2019 - report 2 patients in a clinically defined cohort with genetically unresolved polycystic liver and kidney disease that had rare heterozygous loss-of-function variants in ALG9. Then using a novel ‘genotype-first’ approach to find ALG9 mutation carriers from a large cohort of exome-sequenced individuals, they found that 7/8 (88%) of ALG9 mutation carriers over age 50 had a least 4 kidney cysts (abstract only accessed).

PMID: 28932688 - Davis et al 2017 - report the case of a proband with ALG9-CDG who has a milder phenotype. This female child was born to non-consanguineous parents of Scottish decent. Prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Post-natally, dysmorphic features included shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata. She developed failure to thrive and seizures. A homozygous mutation in ALG9, c.860A > G (p.Tyr287Cys) was identified. Both parents were found to carry one copy of the mutation. In a table of phenotypic features from the 11 known patients with ALG9-CDG (including the one here), 3 other patients are reported with polycystic kidneys and homozygous ALG variants.
Created: 12 Nov 2019, 4:49 p.m. | Last Modified: 12 Nov 2019, 4:50 p.m.
Panel Version: 2.0

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Gillessen-Kaesbach-Nishimura syndrome, 263210

Publications

John Sayer (Newcastle University)

Green List (high evidence)

Sources: Expert Review
Created: 25 Oct 2019, 8:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic liver disease; cystic kidney disease

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cystic liver disease
  • cystic kidney disease
  • Gillessen-Kaesbach-Nishimura syndrome, 263210
OMIM
606941
Clinvar variants
Variants in ALG9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: ALG9.

7 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (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: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ALG9 were changed from cystic liver disease; cystic kidney disease to cystic liver disease; cystic kidney disease; Gillessen-Kaesbach-Nishimura syndrome, 263210

7 May 2020, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ALG9 were set to 31395617

7 May 2020, Gel status: 0

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ALG9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

25 Oct 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

John Sayer (Newcastle University)

gene: ALG9 was added gene: ALG9 was added to Cystic kidney disease. Sources: Expert Review Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALG9 were set to 31395617 Phenotypes for gene: ALG9 were set to cystic liver disease; cystic kidney disease Penetrance for gene: ALG9 were set to Complete Review for gene: ALG9 was set to GREEN