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
AARS	gene	AARS	Expert;Expert Review Red	Paediatric motor neuronopathies		Neurology								False	1	0;0;100	3.13	False		ENSG00000090861	ENSG00000090861	HGNC:20													
AR	gene	AR	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Paediatric motor neuronopathies		Neurology	Other	Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200				20301508;2062380;11436124		False	1	67;0;33	3.13	False	Other - please provide details in the comments	ENSG00000169083	ENSG00000169083	HGNC:644													
BSCL2	gene	BSCL2	Expert;Expert Review Red	Paediatric motor neuronopathies		Neurology						14981520		False	1	100;0;0	3.13	False		ENSG00000168000	ENSG00000168000	HGNC:15832													
DCTN1	gene	DCTN1	Expert;Expert Review Red	Paediatric motor neuronopathies		Neurology								False	1	0;0;0	3.13	False		ENSG00000204843	ENSG00000204843	HGNC:2711													
DMPK	gene	DMPK	Emory Genetics Laboratory;Expert Review Red	Paediatric motor neuronopathies		Neurology	Other	Myotonic dystrophy 1, OMIM:160900						False	1	0;0;100	3.13	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000104936	ENSG00000104936	HGNC:2933													
DNAJB2	gene	DNAJB2	Expert;Expert Review Red;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy, distal, autosomal recessive, 5, 614881				22522442		False	1	0;0;0	3.13	False		ENSG00000135924	ENSG00000135924	HGNC:5228													
FBXO38	gene	FBXO38	Expert Review Red;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuronopathy, distal hereditary motor, type IID   615575  				24207122		False	1	0;0;100	3.13	False		ENSG00000145868	ENSG00000145868	HGNC:28844													
GARS	gene	GARS	Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Distal Spinal Muscular Atrophy						False	1	0;0;0	3.13	False		ENSG00000106105	ENSG00000106105	HGNC:4162													
HSPB3	gene	HSPB3	Expert;Expert Review Red	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Neuronopathy, distal hereditary motor, type IIC   613376				20142617		False	1	0;0;0	3.13	False		ENSG00000169271	ENSG00000169271	HGNC:5248													
MEG3	gene	MEG3	Expert Review Red	Paediatric motor neuronopathies		Neurology								False	1	0;0;0	3.13	False		ENSG00000214548	ENSG00000214548	HGNC:14575													
PLEKHG5	gene	PLEKHG5	Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Distal Spinal Muscular Atrophy;Spinal muscular atrophy, distal, autosomal recessive, 4, 611067				17564964		False	1	0;0;0	3.13	False		ENSG00000171680	ENSG00000171680	HGNC:29105													
SIGMAR1	gene	SIGMAR1	Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Amyotrophic lateral sclerosis 16, juvenile   614373  				21842496		False	1	0;0;100	3.13	False		ENSG00000147955	ENSG00000147955	HGNC:8157													
SLC52A1	gene	SLC52A1	Expert Review Red;UKGTN	Paediatric motor neuronopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal							False	1	0;0;100	3.13	False		ENSG00000132517	ENSG00000132517	HGNC:30225													
SLC5A7	gene	SLC5A7	Expert Review Red;Literature;UKGTN	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuronopathy, distal hereditary motor, type VIIA   158580  				23141292		False	1	0;0;100	3.13	False		ENSG00000115665	ENSG00000115665	HGNC:14025													
SNRPN	gene	SNRPN	Emory Genetics Laboratory;Expert Review Red	Paediatric motor neuronopathies		Neurology	Other - please specifiy in evaluation comments	Prader-Willi syndrome, OMIM:176270				10802660;8723064;34099539		False	1	0;0;100	3.13	False	Other - please provide details in the comments	ENSG00000128739	ENSG00000128739	HGNC:11164													
SYT2	gene	SYT2	Expert;Expert Review Red	Paediatric motor neuronopathies		Neurology								False	1	0;100;0	3.13	False		ENSG00000143858	ENSG00000143858	HGNC:11510													
UBQLN1	gene	UBQLN1	Expert Review Red;Literature	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease				PMID: 22766032 		False	1	0;0;100	3.13	False		ENSG00000135018	ENSG00000135018	HGNC:12508													
DMPK_CTG	str	DMPK	NHS GMS;Expert Review Red;Expert list	Paediatric motor neuronopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myotonic dystrophy 1, OMIM:160900						False	1	50;0;50	3.13	True		ENSG00000104936	ENSG00000104936	HGNC:2933	19	46273463	46273522	45770205	45770264	CTG	35	50