ARX_EIEE1_GCN1

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ARX_EIEE1_GCN1 STR in Mendeliome Version 2.636	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510
Green ARX_EIEE1_GCN1 STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.47 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510
Green ARX_EIEE1_GCN1 STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.161	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510
Green ARX_EIEE1_GCN1 STR in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Movement Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510
Green ARX_EIEE1_GCN1 STR in Repeat Disorders Version 1.15	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags paediatric-onset