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
AMPD2	gene	AMPD2	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy - complex		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI			Peripheral neuropathy;HP:0009830	27066553		False	1	0;0;100	1.19	True		ENSG00000116337	ENSG00000116337	HGNC:469													
GJB3	gene	GJB3	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy - complex		Neurology and neurodevelopmental disorders		HMSN;erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy			Peripheral neuropathy;HP:0009830			False	1	0;0;100	1.19	True		ENSG00000188910	ENSG00000188910	HGNC:4285													
IFRD1	gene	IFRD1	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy - complex		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458);HMSN			Peripheral neuropathy;HP:0009830	29362493;19409521		False	1	0;0;100	1.19	True		ENSG00000006652	ENSG00000006652	HGNC:5456													
PEX7	gene	PEX7	Expert Review Red;Royal Melbourne Hospital	Hereditary Neuropathy - complex		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Refsum disease;Phytanic acid storage disease			Peripheral neuropathy;HP:0009830	20301447;12325024		False	1	0;0;100	1.19	True		ENSG00000112357	ENSG00000112357	HGNC:8860