RBMX

RNA binding motif protein, X-linked
OMIM: 300199, ClinGen, DECIPHER

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber RBMX in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.58 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Amber RBMX in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.49 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Amber RBMX in Mendeliome Version 1.4865	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Amber RBMX in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.784	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555