ALS2

ALS2, alsin Rho guanine nucleotide exchange factor
OMIM: 606352, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ALS2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225
Green ALS2 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225
Amber ALS2 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353
Green ALS2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353
Red ALS2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ALS2-RELATED DISORDERS
Green ALS2 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353
Amber ALS2 in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Spastic paralysis, infantile onset ascending, OMIM:607225
Green ALS2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALS2-RELATED DISORDERS 240656
Red ALS2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225