RAB39B

RAB39B, member RAS oncogene family
OMIM: 300774, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RAB39B in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709
Red RAB39B in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Intellectual developmental disorder, X-linked 72, MIM# 300271
Green RAB39B in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510
Green RAB39B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510
Green RAB39B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked 72, OMIM:300271 Waisman syndrome, OMIM:311510
Green RAB39B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked 72, 300271 (3)
Red RAB39B in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510
Green RAB39B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 72, MIM #300271
Red ISCA-37494-Loss Region in Common deletion and duplication syndromes Version 1.0	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen
Red ISCA-37494-Loss Region in Infertility and Recurrent Pregnancy Loss Version 2.0	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen ClinGen