DEAF1

DEAF1, transcription factor
OMIM: 602635, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber DEAF1 in Autism Version 0.36	review	Not set	Sources Expert Review Amber SFARI
Red DEAF1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 Autism, intellectual disability, basal ganglia dysfunction and epilepsy Tags watchlist
Green DEAF1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Green DEAF1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Literature Phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Green DEAF1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 Mental retardation, autosomal dominant 24, 615828
Green DEAF1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 Mental retardation, autosomal dominant 24, 615828