1. Genes and Genomic Entities
  2. ZSWIM6

ZSWIM6

zinc finger SWIM-type containing 6
OMIM: 615951, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red ZSWIM6 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Acromelic frontonasal dysostosis (603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
Green ZSWIM6 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acromelic frontonasal dysostosis 603671
    Tags
    • mosaicism
    • missense
    Green ZSWIM6 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Acromelic frontonasal dysostosis 603671
    Green ZSWIM6 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ACROMELIC FRONTONASAL DYSOSTOSIS
    Green ZSWIM6 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ACROMELIC FRONTONASAL DYSOSTOSIS 603671
    Green ZSWIM6 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • ACROMELIC FRONTONASAL DYSOSTOSIS
    • AFND
    Green ZSWIM6 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Acromelic frontonasal dysostosis, 603671
    • Includes mental retardation
    • acromelic frontonasal dysostosis with severe intellectual disability
    Tags
    • mosaicism
    • curated-variant-list
    Green ZSWIM6 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acromelic frontonasal dysostosis 603671
    Tags
    • watchlist
    • curated-variant-list
    Green ZSWIM6 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Acromelic frontonasal dysostosis 603671
    Green ZSWIM6 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acromelic frontonasal dysostosis 603671
    Green ZSWIM6 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865