1. Genes and Genomic Entities
  2. ALMS1

ALMS1

ALMS1, centrosome and basal body associated protein
OMIM: 606844, Gene2Phenotype

27 panels

Panel Reviews Mode of inheritance Details
27 panels
Green ALMS1 in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Alstrom syndrome
  • ORPHA64
  • OMIM:203800
Red ALMS1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green ALMS1 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Alstrom syndrome, OMIM:203800
Green ALMS1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Alstrom syndrome
Green ALMS1 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Alstrom syndrome 203800
No list ALMS1 in Limb disorders


Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    Tags
    • curated_removed
    No list ALMS1 in Ductal plate malformation


    Version 1.29

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Alstrom syndrome (203800)
    Tags
    • curated_removed
    No list ALMS1 in Bardet Biedl syndrome


    Version 2.4
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Other
    Phenotypes
    • Alstrom syndrome, 203800
    • Bardet-Biedl Syndrome
    Tags
    • curated_removed
    Red ALMS1 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
    Red ALMS1 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.119

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Eligibility statement prior genetic testing
    Amber ALMS1 in Lipodystrophy - childhood onset


    Version 4.50
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Alstrom syndrome, OMIM:203800
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review
    No list ALMS1 in Monogenic diabetes


    Version 2.58
    Latest signed off version: v2.2 (25 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    Phenotypes
    • Alstrom syndrome
    Tags
    • curated_removed
    Green ALMS1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Alstrom Syndrome
    • Bardet-Biedl Syndrome
    • 203800
    • Alstrom syndrome
    Green ALMS1 in Fetal anomalies


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALSTROM SYNDROME
    Green ALMS1 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALSTROM SYNDROME 203800
    Green ALMS1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.39
    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 Green
    • Expert
    Phenotypes
    • #203800: Alstrom syndrome
    Green ALMS1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.553
    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
    Phenotypes
    • ALSTROM SYNDROME, 203800
    Green ALMS1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Alstrom syndrome, 203800
    Red ALMS1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Alstrom syndrome 203800
    • Eye Disorders
    Green ALMS1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Orphanet
    • UKGTN
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alstrom syndrome
    • Bardet-Biedl Syndrome
    • 203800
    • Alstrom Syndrome
    Red ALMS1 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Alstrom Syndrome #203800
    Green ALMS1 in Ophthalmological ciliopathies


    Version 3.7
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Eligibility statement prior genetic testing
    • UKGTN
    • Expert list
    Phenotypes
    • Alstrom Syndrome
    • Bardet-Biedl Syndrome
    • 203800
    • Alstrom syndrome
    Green ALMS1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Eligibility statement prior genetic testing
    • UKGTN
    • Expert list
    Phenotypes
    • Bardet-Biedl Syndrome
    • Alstrom syndrome, OMIM:203800
    Green ALMS1 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (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
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • OMIM 203800
    Red ALMS1 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 ALMS1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alstrom syndrome, 203800
    Green ALMS1 in Alstrom syndrome


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green