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
ARHGEF10	gene	ARHGEF10	Expert Review Amber;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Slowed nerve conduction velocity, AD, 608236;HMSN			Peripheral neuropathy;HP:0009830	14508709;21719701;25025039;25275565;25091364		False	2	50;50;0	1.51	True		ENSG00000104728	ENSG00000104728	HGNC:14103													
ARPC3	gene	ARPC3	Expert Review Amber;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease MONDO:0015626			Peripheral neuropathy;HP:0009830	36928819;26166300		False	2	0;100;0	1.51	True		ENSG00000111229	ENSG00000111229	HGNC:706													
C1orf194	gene	C1orf194	Expert Review Amber;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, intermediate or demyelinating			Peripheral neuropathy;HP:0009830	31199454;32592472		False	2	0;100;0	1.51	True		ENSG00000179902	ENSG00000179902	HGNC:32331													
DGAT2	gene	DGAT2	Expert Review;Expert Review Amber;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related			Peripheral neuropathy;HP:0009830	26786738		False	2	0;100;0	1.51	True		ENSG00000062282	ENSG00000062282	HGNC:16940													
DHTKD1	gene	DHTKD1	Expert Review Amber;Expert Review Green;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HMSN;Charcot Marie Tooth disease, axonal, type 2Q, 615025;2 aminoadipic 2 oxoadipic aciduria, 204750			Peripheral neuropathy;HP:0009830	23141294;29661920;28902413		False	2	50;50;0	1.51	True		ENSG00000181192	ENSG00000181192	HGNC:23537													
FBXO38	gene	FBXO38	Expert Review Amber;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuronopathy, distal hereditary motor, type IID, 615575;dHMN/dSMA			Peripheral neuropathy;HP:0009830			False	2	0;100;0	1.51	True		ENSG00000145868	ENSG00000145868	HGNC:28844													
LMNA	gene	LMNA	Expert Review Amber;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 2B1 , MIM#605588			Peripheral neuropathy;HP:0009830	11799477;28902413		False	2	0;100;0	1.51	True		ENSG00000160789	ENSG00000160789	HGNC:6636													
MYO9B	gene	MYO9B	Expert Review Amber;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related			Peripheral neuropathy;HP:0009830	PMID: 36260368		False	2	0;100;0	1.51	True		ENSG00000099331	ENSG00000099331	HGNC:7609													
NAGLU	gene	NAGLU	Expert Review Amber;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Charcot-Marie-Tooth disease, axonal, type 2V, 616491;HSAN/SFN			Peripheral neuropathy;HP:0009830			False	2	50;50;0	1.51	True		ENSG00000108784	ENSG00000108784	HGNC:7632													
PCK2	gene	PCK2	Expert Review Amber;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peripheral neuropathy (MONDO#0005244), PCK2-related			Peripheral neuropathy;HP:0009830	36845668		False	2	0;33;67	1.51	True		ENSG00000100889	ENSG00000100889	HGNC:8725													
PMP2	gene	PMP2	Expert Review Amber;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	HMSN;Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279			Peripheral neuropathy;HP:0009830	26257172;26828946;27009151		False	2	33;67;0	1.51	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000147588	ENSG00000147588	HGNC:9117													
RBM7	gene	RBM7	Expert list;Expert Review Amber	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	SMA-like spinal motor neuropathy;dHMN/dSMA			Peripheral neuropathy;HP:0009830	27193168		False	2	0;100;0	1.51	True		ENSG00000076053	ENSG00000076053	HGNC:9904													
UBA5	gene	UBA5	Expert Review Amber;Literature	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypomyelinating neuropathy			Peripheral neuropathy;HP:0009830	32179706;26872069		False	2	0;100;0	1.51	True		ENSG00000081307	ENSG00000081307	HGNC:23230													
WARS	gene	WARS	Expert Review Amber;Literature;Royal Melbourne Hospital	Hereditary Neuropathy_CMT - isolated		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuronopathy, distal hereditary motor, type IX, MIM#617721			Peripheral neuropathy;HP:0009830	28369220;31321409;31069783		False	2	67;33;0	1.51	True		ENSG00000140105	ENSG00000140105	HGNC:12729