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
AIFM1	gene	AIFM1	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	Unknown							False	1	50;0;50	1.27	False		ENSG00000156709	ENSG00000156709	HGNC:8768													
ARPP21	gene	ARPP21	ClinGen	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	amyotrophic lateral sclerosis MONDO:0004976				30811981;31653410;35525134		False	1	0;0;100	1.27	False		ENSG00000172995	ENSG00000172995	HGNC:16968													
ASAH1	gene	ASAH1	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy with progressive myoclonic epilepsy, 159950						False	1	50;0;50	1.27	True		ENSG00000104763	ENSG00000104763	HGNC:735													
ATP7A	gene	ATP7A	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spinal muscular atrophy, distal, X-linked 3, 300489						False	1	67;0;33	1.27	True		ENSG00000165240	ENSG00000165240	HGNC:869													
BICD2	gene	BICD2	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291						False	1	67;0;33	1.27	True		ENSG00000185963	ENSG00000185963	HGNC:17208													
DAO	gene	DAO	Expert list;Expert Review Red	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic Lateral Sclerosis				29274788;29895397;20368421;29194436		False	1	0;0;100	1.27	True		ENSG00000110887	ENSG00000110887	HGNC:2671													
DYNC1H1	gene	DYNC1H1	Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600						False	1	50;0;50	1.27	True		ENSG00000197102	ENSG00000197102	HGNC:2961													
ERLIN1	gene	ERLIN1	Expert list;Expert Review Red	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Amyotrophic lateral sclerosis				29453415		False	1	0;0;100	1.27	True		ENSG00000107566	ENSG00000107566	HGNC:16947													
EWSR1	gene	EWSR1	Expert list;Expert Review Red	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis				29731676;22454397		False	1	0;100;0	1.27	True		ENSG00000182944	ENSG00000182944	HGNC:3508													
EXOSC8	gene	EXOSC8	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1C, MIM# 616081				24989451		False	1	0;0;100	1.27	True		ENSG00000120699	ENSG00000120699	HGNC:17035													
GNE	gene	GNE	Expert list;Expert Review Green;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Amyotrophic lateral sclerosis				29086072		False	1	50;0;50	1.27	False		ENSG00000159921	ENSG00000159921	HGNC:23657													
IGHMBP2	gene	IGHMBP2	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuronopathy, distal hereditary motor, type VI 604320						False	1	50;0;50	1.27	True		ENSG00000132740	ENSG00000132740	HGNC:5542													
LAS1L	gene	LAS1L	Expert list;Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	congenital lethal motor neuron disease				24647030		False	1	50;0;50	1.27	True		ENSG00000001497	ENSG00000001497	HGNC:25726													
NEFH	gene	NEFH	ClinGen;Expert Review Red	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	amyotrophic lateral sclerosis MONDO:0004976						False	1	0;0;100	1.27	True		ENSG00000100285	ENSG00000100285	HGNC:7737													
PLEKHG5	gene	PLEKHG5	Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067				17564964		False	1	0;0;100	1.27	True		ENSG00000171680	ENSG00000171680	HGNC:29105													
SLC52A1	gene	SLC52A1	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Riboflavin deficiency, MIM#615026				29122468;17689999		False	1	0;0;100	1.27	True		ENSG00000132517	ENSG00000132517	HGNC:30225													
TRIP4	gene	TRIP4	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866				26924529		False	1	0;0;100	1.27	True		ENSG00000103671	ENSG00000103671	HGNC:12310													
TRPV4	gene	TRPV4	Expert list;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinal muscular atrophy, distal, congenital nonprogressive, 600175						False	1	50;0;50	1.27	True		ENSG00000111199	ENSG00000111199	HGNC:18083													
UBA1	gene	UBA1	Expert list;Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Complex Neurology Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Motor Neurone Disease		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830				18179898;32181232;31932168;29034082;27699224;26028276;23518311		False	1	50;0;50	1.27	True		ENSG00000130985	ENSG00000130985	HGNC:12469