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
AP1S2	gene	AP1S2	Expert list;Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pettigrew syndrome, MIM# 304340			Iron accumulation in brain;HP:0012675	23756445		False	2	50;50;0	1.0	True		ENSG00000182287	ENSG00000182287	HGNC:560													
AP4M1	gene	AP4M1	Expert list;Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 50, autosomal recessive, MIM# 612936			Iron accumulation in brain;HP:0012675	29473051		False	2	50;50;0	1.0	True		ENSG00000221838	ENSG00000221838	HGNC:574													
ATP7B	gene	ATP7B	Expert list;Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Wilson disease, MIM# 277900			Iron accumulation in brain;HP:0012675	27543917;28376267		False	2	50;50;0	1.0	True		ENSG00000123191	ENSG00000123191	HGNC:870													
GTPBP2	gene	GTPBP2	Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Jaberi-Elahi syndrome, MIM# 617988			Iron accumulation in brain;HP:0012675	26675814;29449720		False	2	50;50;0	1.0	True		ENSG00000172432	ENSG00000172432	HGNC:4670													
SCP2	gene	SCP2	Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724;Neurodegeneration with brain iron accumulation;ataxia			Iron accumulation in brain;HP:0012675	26497993;16685654		False	2	0;50;50	1.0	True		ENSG00000116171	ENSG00000116171	HGNC:10606													
THAP1	gene	THAP1	Expert Review Amber;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cervical dystonia;dystonia;dystonic tremor			Iron accumulation in brain;HP:0012675	38094642;33665847		False	2	100;0;0	1.0	True		ENSG00000131931	ENSG00000131931	HGNC:20856