ERLIN2

ER lipid raft associated 2
OMIM: 611605, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ERLIN2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 Spastic paraplegia, autosomal dominant hereditary spastic paraplegia neurodegeneration
Green ERLIN2 in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia, autosomal dominant Spastic paraplegia 18, autosomal recessive, 611225 hereditary spastic paraplegia neurodegeneration
Green ERLIN2 in Adult onset hereditary spastic paraplegia Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia, autosomal dominant neurodegeneration. Spastic paraplegia 18, autosomal recessive, 611225 hereditary spastic paraplegia
Red ERLIN2 in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes neurodegeneration hereditary spastic paraplegia Spastic paraplegia 18, autosomal recessive, 611225 Spastic paraplegia, autosomal dominant
Red ERLIN2 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green ERLIN2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 intellectual disability AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green ERLIN2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 18, autosomal recessive, 611225