PSMC3

proteasome 26S subunit, ATPase 3
OMIM: 186852, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber PSMC3 in Cataract Level 2: Ophthalmological disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Green PSMC3 in Mendeliome Version 1.4852	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539 Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Green PSMC3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.361	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Green PSMC3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539 Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Amber PSMC3 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.190 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354