ANKRD11

ankyrin repeat domain 11
OMIM: 611192, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ANKRD11 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

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

Red ANKRD11 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • KBG syndrome, MIM# 148050

Green ANKRD11 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • KBG syndrome, MIM# 148050

Green ANKRD11 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • KBG syndrome, MIM # 148050

Green ANKRD11 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, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • KBG syndrome, MIM#148050

    Green ANKRD11 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
    • KBG syndrome, MIM # 148050

    Green ANKRD11 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
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    Phenotypes
    • KBG syndrome 148050

    Green ANKRD11 in Clefting disorders

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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    Phenotypes
    • Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
    • Orofacial Clefting with skeletal features
    • KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)

    Green ANKRD11 in Growth failure


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • KBG syndrome, MIM# 148050

    Green ANKRD11 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • KBG syndrome 148050

    Green ANKRD11 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • KBG syndrome, MIM# 148050