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
AIFM1	gene	AIFM1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	 Combined oxidative phosphorylation deficiency 6 300816				20362274		False	1	50;0;50	1.40	False		ENSG00000156709	ENSG00000156709	HGNC:8768													
BDNF	gene	BDNF	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital 209880				27780732;23649659		False	1	0;100;0	1.40	False		ENSG00000176697	ENSG00000176697	HGNC:1033													
DCAF10	gene	DCAF10	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	1.40	False		ENSG00000122741	ENSG00000122741	HGNC:23686													
HEXA	gene	HEXA	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"GM2-gangliosidosis, several forms	272800;Tay-Sachs disease	272800;[Hex A pseudodeficiency]	272800	AR"						False	1	0;0;100	1.40	False		ENSG00000213614	ENSG00000213614	HGNC:4878													
HTT	gene	HTT	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	Other	Huntington disease, OMIM:143100						False	1	100;0;0	1.40	False		ENSG00000197386	ENSG00000197386	HGNC:4851													
NDUFA2	gene	NDUFA2	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					18513682		False	1	50;0;50	1.40	False		ENSG00000131495	ENSG00000131495	HGNC:7685													
NDUFA9	gene	NDUFA9	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Leigh syndrome due to mitochondrial complex I deficiency	256000"				22114105		False	1	50;0;50	1.40	False		ENSG00000139180	ENSG00000139180	HGNC:7693													
NDUFS3	gene	NDUFS3	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Leigh syndrome due to mitochondrial complex I deficiency 256000;Mitochondrial complex I deficiency	252010"						False	1	50;0;50	1.40	False		ENSG00000213619	ENSG00000213619	HGNC:7710													
NUP62	gene	NUP62	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Striatonigral degeneration, infantile	271930"				12374138;14718703;16786527		False	1	100;0;0	1.40	False		ENSG00000213024	ENSG00000213024	HGNC:8066													
PDX1	gene	PDX1	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"MODY, type IV	606392;Pancreatic agenesis 1	260370"						False	1	100;0;0	1.40	False		ENSG00000139515	ENSG00000139515	HGNC:6107													
SUOX	gene	SUOX	Expert Review Red;Literature	Structural basal ganglia disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal							False	1	0;0;100	1.40	False		ENSG00000139531	ENSG00000139531	HGNC:11460