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
BANF1	gene	BANF1	Expert Review Red;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related			Peripheral neuropathy;HP:0009830	36980188		False	1	0;0;100	1.51	True		ENSG00000175334	ENSG00000175334	HGNC:17397													
HSPB3	gene	HSPB3	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HMSN, dHMN/dSMA;?Neuronopathy, distal hereditary motor, type IIC, 613376			Peripheral neuropathy;HP:0009830	20142617;27549087		False	1	0;0;100	1.51	True		ENSG00000169271	ENSG00000169271	HGNC:5248													
IQGAP3	gene	IQGAP3	Expert Review Red;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary neuropathy			Peripheral neuropathy;HP:0009830	32341455		False	1	0;0;100	1.51	True		ENSG00000183856	ENSG00000183856	HGNC:20669													
KIF1B	gene	KIF1B	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot Marie Tooth disease, type 2A1, 118210;HMSN			Peripheral neuropathy;HP:0009830	11389829;30126838;25802885		False	1	0;33;67	1.51	True		ENSG00000054523	ENSG00000054523	HGNC:16636													
KLHL13	gene	KLHL13	Expert Review;Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	HMSN			Peripheral neuropathy;HP:0009830	24627108		False	1	0;0;100	1.51	True		ENSG00000003096	ENSG00000003096	HGNC:22931													
LAS1L	gene	LAS1L	Expert Review;Expert Review Green;Expert Review Red	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	congenital lethal motor neuron disease			Peripheral neuropathy;HP:0009830	24647030		False	1	50;0;50	1.51	True		ENSG00000001497	ENSG00000001497	HGNC:25726													
MARS	gene	MARS	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HMSN;Charcot-Marie-Tooth disease, axonal, type 2U, 616280			Peripheral neuropathy;HP:0009830	23729695;24354524;29655802		False	1	0;50;50	1.51	True		ENSG00000166986	ENSG00000166986	HGNC:6898													
MED25	gene	MED25	Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Charcot-Marie-Tooth disease, type 2B2	MIM#605589"			Peripheral neuropathy;HP:0009830	19290556;30039206		False	1	0;0;100	1.51	True		ENSG00000104973	ENSG00000104973	HGNC:28845													
NRG1	gene	NRG1	Expert list;Expert Review;Expert Review Red	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peripheral neuropathy MONDO:0005244			Peripheral neuropathy;HP:0009830	35485770		False	1	0;33;67	1.51	True		ENSG00000157168	ENSG00000157168	HGNC:7997													
SH3BP4	gene	SH3BP4	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HMSN			Peripheral neuropathy;HP:0009830	24627108		False	1	0;0;100	1.51	True		ENSG00000130147	ENSG00000130147	HGNC:10826													
TRPA1	gene	TRPA1	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Episodic pain syndrome, familial, 1;HSAN/SFN			Peripheral neuropathy;HP:0009830	20547126		False	1	0;0;100	1.51	True		ENSG00000104321	ENSG00000104321	HGNC:497													
