RAPGEF2

Rap guanine nucleotide exchange factor 2
OMIM: 609530, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red RAPGEF2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 amyotrophic lateral sclerosis MONDO:0004976 Tags STR
Green RAPGEF2 in Mendeliome Version 1.4601	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 amyotrophic lateral sclerosis MONDO:0004976 Tags STR
No list RAPGEF2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.389 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Tags STR
Green RAPGEF2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.709	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092 amyotrophic lateral sclerosis MONDO:0004976 Tags STR
Amber RAPGEF2_FAME7_TTTCA STR in Mendeliome Version 1.4601	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 7 MIM#618075
Amber RAPGEF2_FAME7_TTTCA STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.389 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 7 MIM#618075
Amber RAPGEF2_FAME7_TTTCA STR in Repeat Disorders Version 0.272	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 7 MIM#618075 Tags adult-onset