DEAF1

DEAF1, transcription factor
OMIM: 602635, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red DEAF1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 Vulto-van Silfout-de Vries syndrome, OMIM:615828 Tags watchlist
Green DEAF1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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