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
AFG3L2	gene	AFG3L2	Expert Review Red;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic ataxia 5, autosomal recessive, MIM# 614487;Spinocerebellar ataxia 28, MIM# 610246			Iron accumulation in brain;HP:0012675	32237276		False	1	50;0;50	1.0	True		ENSG00000141385	ENSG00000141385	HGNC:315													
DDHD1	gene	DDHD1	Expert Review Red;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	spastic paraplegia;sensory neuropathy			Iron accumulation in brain;HP:0012675	28818478		False	1	100;0;0	1.0	True		ENSG00000100523	ENSG00000100523	HGNC:19714													
PSEN1	gene	PSEN1	Expert Review Red;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodegeneration with brain iron accumulation;Frontotemporal dementia, MIM# 600274			Iron accumulation in brain;HP:0012675	28664294		False	1	0;0;100	1.0	True		ENSG00000080815	ENSG00000080815	HGNC:9508													
REPS1	gene	REPS1	Expert Review Red;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Neurodegeneration with brain iron accumulation 7 , MIM#	617916"			Iron accumulation in brain;HP:0012675	29395073		False	1	0;0;100	1.0	True		ENSG00000135597	ENSG00000135597	HGNC:15578													
SQSTM1	gene	SQSTM1	Expert Review Red;Literature	Neurodegeneration with brain iron accumulation		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	ataxia;dystonia;gaze palsy;neuroregression;cognitive decline;childhood dementia			Iron accumulation in brain;HP:0012675	27545679		False	1	100;0;0	1.0	True		ENSG00000161011	ENSG00000161011	HGNC:11280