SETD1A

SET domain containing 1A
OMIM: 611052, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SETD1A in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Green SETD1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Green SETD1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Red SETD1A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Amber SETD1A in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Expert list Phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056