UBA1:Ensemblv115

ubiquitin like modifier activating enzyme 1
OMIM: 314370, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green UBA1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830
Green UBA1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	1 review	Other	Sources Literature Expert Review Green Phenotypes Autoinflammatory disease, adult onset VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 Tags somatic
Green UBA1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes dHMN/dSMA Spinal muscular atrophy, X-linked 2, MIM# 301830
Green UBA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Green UBA1 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)