RHEB

Ras homolog, mTORC1 binding
OMIM: 601293, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green RHEB in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.161	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related
Green RHEB in Mendeliome Version 1.4230	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia
Green RHEB in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.363 Component of the following Super Panels: Progressive Neurological Conditions	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia
Green RHEB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.641	1 review	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia
Green RHEB in Fetal anomalies Version 1.523	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Macrocephaly Focal cortical dysplasia