UBTF

upstream binding transcription factor
OMIM: 600673, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green UBTF in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 Parkinsonism Dystonia Chorea Brain atrophy
Amber UBTF in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701
Amber UBTF in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Green UBTF in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701
Green UBTF in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genetic Health Queensland Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Neurodevelopmental disorder, MONDO:0700092, UBTF-related
Green UBTF in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701
Green UBTF in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701