TBL1XR1

transducin beta like 1 X-linked receptor 1
OMIM: 608628, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TBL1XR1 in Mendeliome Version 1.2302	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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	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 1.63	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 0.43	1 review	Unknown	Sources Expert Review Red NSW Health Pathology
Amber TBL1XR1 in Fetal anomalies Version 1.313	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