EP400

E1A binding protein p400
OMIM: 606265, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green EP400 in Mendeliome Version 2.636	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Green EP400 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.47 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Green EP400 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.161	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Amber EP400_SCA_CAG STR in Incidentalome Version 1.48	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Spinocerebellar ataxia, EP400-related MONDO:0000437 Tags preprint
Amber EP400_SCA_CAG STR in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.187 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, EP400-related MONDO:0000437 Tags preprint
Amber EP400_SCA_CAG STR in Repeat Disorders Version 1.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, EP400-related MONDO:0000437 Tags preprint