PanelApp (test)
  1. Genes and Genomic Entities
  2. TBL1XR1:Ensemblv115

TBL1XR1:Ensemblv115

TBL1X/Y related 1
OMIM: 608628, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TBL1XR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Intellectual disability, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342

Green TBL1XR1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342