TBL1XR1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBL1XR1 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342

Green TBL1XR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Red TBL1XR1 in Incidentalome_PREGEN_DRAFT


Version 1.0

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Amber TBL1XR1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342