EXOSC5

exosome component 5
OMIM: 606492, ClinGen, DECIPHER

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 1.78	2 reviews	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 1.2302	2 reviews	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 0.540	1 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 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576