RBMX

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber RBMX in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.13 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 2.11 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
Green RBMX in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Expert Review Green Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Green RBMX in Mendeliome Version 2.362	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Green RBMX in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Expert Review Green Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Green RBMX in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.30 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Expert Review Green Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Green RBMX in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.6	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Expert Review Green Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related
Green RBMX in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.61	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555