Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ALS2	gene	ALS2	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Spastic paralysis, infantile onset ascending, OMIM:607225				11586297; 20018642		False	2	67;33;0	3.13	False		ENSG00000003393	ENSG00000003393	HGNC:443													
ATP7A	gene	ATP7A	Expert;Expert Review Amber;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Menkes disease, OMIM:309400;Occipital horn syndrome, OMIM:304150;Spinal muscular atrophy, distal, X-linked 3, OMIM:300489						False	2	0;100;0	3.13	False		ENSG00000165240	ENSG00000165240	HGNC:869													
EXOSC8	gene	EXOSC8	Expert Review Amber;Literature;UKGTN	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1C, OMIM:616081;neuronopathy, distal hereditary motor, MONDO:0000075				24989451		False	2	33;67;0	3.13	False		ENSG00000120699	ENSG00000120699	HGNC:17035													
HSPB1	gene	HSPB1	Expert;Expert Review Amber	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuropathy, distal hereditary motor, type IIB, OMIM:608634;Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595				15122254		False	2	0;0;100	3.13	False		ENSG00000106211	ENSG00000106211	HGNC:5246													
HSPB8	gene	HSPB8	Expert;Expert Review Amber	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuropathy, distal hereditary motor, type IIA, OMIM:158590				15122253;26718575		False	2	0;0;100	3.13	False		ENSG00000152137	ENSG00000152137	HGNC:30171													
REEP1	gene	REEP1	Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Neuronopathy, distal hereditary motor, type VB, OMIM:614751				22703882;18321925		False	2	0;50;50	3.13	False		ENSG00000068615	ENSG00000068615	HGNC:25786													
SETX	gene	SETX	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433				15106121;12023320		False	2	0;100;0	3.13	False		ENSG00000107290	ENSG00000107290	HGNC:445													
VAPB	gene	VAPB	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627				15372378		False	2	0;33;67	3.13	False		ENSG00000124164	ENSG00000124164	HGNC:12649