AP5Z1

adaptor related protein complex 5 zeta 1 subunit
OMIM: 613653, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AP5Z1 in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342
Green AP5Z1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.23 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia MONDO:0019064
Green AP5Z1 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.56 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary macular dystrophy MONDO:0020242
Green AP5Z1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.15 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342
Green AP5Z1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647