PSMF1:Ensemblv90

proteasome inhibitor subunit 1
ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PSMF1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.44 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Green PSMF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related