1. Genes and Genomic Entities
  2. YAP1

YAP1

Yes associated protein 1
OMIM: 606608, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green YAP1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, ocular, 120433
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
  • isolated ocular coloboma
Amber YAP1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.178
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433
Green YAP1 in DDG2P


Version 6.441
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
    • COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433
    Red YAP1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
    Red YAP1 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
    • COB1
    Red YAP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.336
    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, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433
    Green YAP1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Coloboma, ocular, 120433
    • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
    • isolated ocular coloboma