MME

membrane metalloendopeptidase
OMIM: 120520, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green MME in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Spinocerebellar ataxia 43 MIM#617018
Red MME in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia type 43, 617018
Green MME in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Phenotypes Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866