PSMF1

proteasome inhibitor subunit 1
OMIM: 617858, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PSMF1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.32 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Green PSMF1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.6 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Green PSMF1 in Mendeliome Version 2.588	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695 Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694 Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Green PSMF1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.25	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Green PSMF1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Green PSMF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Green PSMF1 in Fetal anomalies Version 2.81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695