ZSWIM6

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ZSWIM6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acromelic frontonasal dysostosis - MIM#603671

Green ZSWIM6 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
  • NEDMAGA

Green ZSWIM6 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865

Amber ZSWIM6 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865

Green ZSWIM6 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis, MIM# 603671

Amber ZSWIM6 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Acromelic frontonasal dysostosis (MIM#603671)
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865

Green ZSWIM6 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865
  • Acromelic frontonasal dysostosis, MIM# 603671

Green ZSWIM6 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ZSWIM6 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ZSWIM6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acromelic frontonasal dysostosis MIM#603671
    • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865

    Green ZSWIM6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865

    Green ZSWIM6 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Other
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acromelic frontonasal dysostosis 603671

    Red ZSWIM6 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.35

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
    • Acromelic frontonasal dysostosis (603671)

    Green ZSWIM6 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

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

    Green ZSWIM6 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    Phenotypes
    • Acromelic frontonasal dysostosis (MIM#603671)