EMILIN1

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green EMILIN1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Arterial tortuosity-bone fragility syndrome, MIM# 620908
Green EMILIN1 in Mendeliome Version 1.3512	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Arterial tortuosity-bone fragility syndrome, MIM# 620908
Green EMILIN1 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes arterial tortuosity-bone fragility syndrome MONDO:0971179
Amber EMILIN1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuronopathy, distal hereditary motor, type X, MIM# 620080 Peripheral neuropathy aortic aneurysm

4 panels