1. Genes and Genomic Entities
  2. POMK

POMK

protein-O-mannose kinase
OMIM: 615247, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green POMK in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Red POMK in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
    Green POMK in Congenital disorders of glycosylation

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
    Red POMK in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.14
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    Red POMK in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.5
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
    Green POMK in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.24
    Latest signed off version: v4.23 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
    Green POMK in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
    Red POMK in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094
    • limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
    Red POMK in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • UKGTN
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
    Green POMK in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094
    • limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
    Green POMK in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
    Green POMK in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
    Amber POMK in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249
    Green POMK in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
    • ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094