EFEMP1

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green EFEMP1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type ID, MIM# 620780
Green EFEMP1 in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Glaucoma 1, open angle, H, MIM# 611276
Green EFEMP1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Doyne honeycomb degeneration of retina, MIM# 126600 Cutis laxa, autosomal recessive, type ID, MIM# 620780 Glaucoma 1, open angle, H, MIM# 611276
Green EFEMP1 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Inherited macular dystrophy (Doyne/dominant drusen)

4 panels