TRRAP:Ensemblv115

transformation/transcription domain associated protein
OMIM: 603015, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red TRRAP in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism, MIM# 618454

Green TRRAP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism, MIM#618454

Red TRRAP in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 75 MIM#618778

Green TRRAP 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
  • Expert Review
  • Expert Review Green
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism, MIM# 618454