AFDN:Ensemblv90

afadin, adherens junction formation factor
OMIM: 159559, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red AFDN in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cleft lip/palate, MONDO:0016044, AFDN-related

Red AFDN in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review Unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Epilepsy, MONDO:0015653
    Tags
    • SV/CNV

    Red AFDN in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Cleft lip/palate, MONDO:0016044, AFDN-related

    Red AFDN in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Cleft lip/palate, MONDO:0016044, AFDN-related