TAF1

TATA-box binding protein associated factor 1
OMIM: 313650, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
No list TAF1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Tags STR deep intronic founder
Green TAF1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TAF1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966 Dystonia-Parkinsonism, X-linked, OMIM #314250
Amber TAF1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Mental retardation, X-linked, syndromic 33 300966 congenital cardiac disease and global developmental delay
Green TAF1 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Mental retardation, X-linked, syndromic 33, MIM# 300966 Tags deep intronic founder
Green TAF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 33, MIM# 300966
No list TAF1 in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Dystonia-Parkinsonism, X-linked, 314250 (NB complex mutation) Tags deep intronic founder
Green TAF1 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Mental retardation, X-linked, syndromic 33, MIM# 300966
Green XDP STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green XDP STR in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green XDP STR in Repeat Disorders Version 0.167	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder adult-onset