EXOSC2

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber EXOSC2 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Amber EXOSC2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Amber EXOSC2 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list RetNet Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763

3 panels