YAP1

Yes associated protein 1
OMIM: 606608, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green YAP1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433

Green YAP1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433

Amber YAP1 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 Amber
  • Genetic Health Queensland
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433

Green YAP1 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
  • Expert Review Green
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433

Green YAP1 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433