EXOSC5

exosome component 5
OMIM: 606492, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green EXOSC5 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia
Green EXOSC5 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia
Red EXOSC5 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia
Green EXOSC5 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia
Green EXOSC5 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576