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 Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spinocerebellar ataxia 28, MIM# 610246;optic atrophy;spastic ataxia;L-dopa-responsive parkinsonism			Abnormality of extrapyramidal motor function;HP:0002071	30252181;36110148		False	2	33;33;33	2.10	True		ENSG00000141385	ENSG00000141385	HGNC:315													
APP	gene	APP	Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alzheimer disease 1, familial, MIM# 104300			Abnormality of extrapyramidal motor function;HP:0002071			False	2	0;100;0	2.10	True		ENSG00000142192	ENSG00000142192	HGNC:620													
COASY	gene	COASY	Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 6, MIM# 615643			Abnormality of extrapyramidal motor function;HP:0002071	28489334;24360804		False	2	0;100;0	2.10	True		ENSG00000068120	ENSG00000068120	HGNC:29932													
DDC	gene	DDC	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, MIM# 608643;Infantile-onset parkinsonism & dystonia;Bulbar dysfunction;Oculogyric crisis;Autonomic dysfunction;Intellectual disability			Abnormality of extrapyramidal motor function;HP:0002071	PMID: 33983693		False	2	50;50;0	2.10	True		ENSG00000132437	ENSG00000132437	HGNC:2719													
DHDDS	gene	DHDDS	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay and seizures with or without movement abnormalities, MIM# 617836;Myoclonic Epilepsy;Parkinsonism;Ataxia;Intellectual disability			Abnormality of extrapyramidal motor function;HP:0002071	PMID: 34837344;29100083		False	2	50;50;0	2.10	True		ENSG00000117682	ENSG00000117682	HGNC:20603													
EPM2A	gene	EPM2A	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780;Progressive Myoclonic Epilepsy;Parkinsonism			Abnormality of extrapyramidal motor function;HP:0002071	27574708;28818698		False	2	50;50;0	2.10	True		ENSG00000112425	ENSG00000112425	HGNC:3413													
KIF5A	gene	KIF5A	Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spastic paraplegia 10, autosomal dominant MIM#604187			Abnormality of extrapyramidal motor function;HP:0002071	18853458		False	2	0;100;0	2.10	True		ENSG00000155980	ENSG00000155980	HGNC:6323													
NHLRC1	gene	NHLRC1	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780;Lafora disease;Progressive Myoclonic Epilepsy;Parkinsonism			Abnormality of extrapyramidal motor function;HP:0002071	22425593;32301727		False	2	50;50;0	2.10	True		ENSG00000187566	ENSG00000187566	HGNC:21576													
PNPLA6	gene	PNPLA6	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149			Abnormality of extrapyramidal motor function;HP:0002071	32623594;36825042		False	2	0;100;0	2.10	True		ENSG00000032444	ENSG00000032444	HGNC:16268													
PTPA	gene	PTPA	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Intellectual disability, MONDO: 36073231, PTPA-related;Parkisonism			Abnormality of extrapyramidal motor function;HP:0002071	36073231;37448355		False	2	0;100;0	2.10	True		ENSG00000119383	ENSG00000119383	HGNC:9308													
RAB32	gene	RAB32	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923			Abnormality of extrapyramidal motor function;HP:0002071	38614108;38858457		False	2	0;50;50	2.10	True	Other	ENSG00000118508	ENSG00000118508	HGNC:9772													
UQCRC1	gene	UQCRC1	Expert Review Amber;Literature	Early-onset Parkinson disease		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parkinsonism with polyneuropathy, MIM# 619279			Abnormality of extrapyramidal motor function;HP:0002071	33141179;33248804		False	2	0;100;0	2.10	True		ENSG00000010256	ENSG00000010256	HGNC:12585													
