ERLIN2

ER lipid raft associated 2
OMIM: 611605, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ERLIN2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes hereditary spastic paraplegia 18 MONDO:0012639
Red ERLIN2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 18A, autosomal dominant, MIM#620512 Spastic paraplegia 18B, autosomal recessive, MIM#611225
Green ERLIN2 in Mendeliome Version 1.3802	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512
Green ERLIN2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ERLIN2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 18, autosomal recessive, MIM#611225
Green ERLIN2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.130 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512