1. Genes and Genomic Entities
  2. ALG9

ALG9

ALG9, alpha-1,2-mannosyltransferase
OMIM: 606941, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Amber ALG9 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type II, MIM#608776
Green ALG9 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • ALG9-CDG (Disorders of protein N-glycosylation)
    • Congenital disorder of glycosylation, type Il 608776
    • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
    Amber ALG9 in Polycystic liver disease


    Version 1.31
    Latest signed off version: v1.26 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • autosomal dominant polycystic kidney disease, MONDO:0004691
    • PCLD
    Green ALG9 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 4.24
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • cystic liver disease
    • cystic kidney disease
    • Gillessen-Kaesbach-Nishimura syndrome, 263210
    Green ALG9 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.65
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Gillessen-Kaesbach-Nishimura syndrome 263210
    • Congenital disorder of glycosylation, type Il 608776
    • Gillessen-Kaesbach-Nishimura syndrome 263210
    Amber ALG9 in Unexplained young onset end-stage renal disease


    Version 3.42
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • cystic liver disease
    • cystic kidney disease
    • Gillessen-Kaesbach-Nishimura syndrome, 263210
    Tags
    • Q4_23_promote_green
    Green ALG9 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
    • ALG9-CDG (Disorders of protein N-glycosylation)
    • Congenital disorder of glycosylation, type Il 608776
    Green ALG9 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
    • ALG9-CDG (Disorders of protein N-glycosylation)
    • Congenital disorder of glycosylation, type Il 608776
    Green ALG9 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Gillessen-Kaesbach-Nishimura syndrome, 263210
    • AR lethal skeletal dysplasia
    • ALG9-CDG
    • Congenital disorder of glycosylation, type Il, 608776
    • NIHF
    • hydops fetalis
    Green ALG9 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ALG9-CDG 300153
    Red ALG9 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.111
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • GILLESSEN-KAESBACH-NISHIMURA SYNDROME
    • GIKANIS
    Green ALG9 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation type Il 608776
    Green ALG9 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review 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
    Red ALG9 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ALG9 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Il, 608776
    • Gillessen-Kaesbach-Nishimura syndrome, 263210