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
ATP13A2	gene	ATP13A2	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Kufor-Rakeb syndrome OMIM:606693;Kufor-Rakeb syndrome MONDO:0011706				21362476;22388936		False	3	0;100;0	3.2	False		ENSG00000159363	ENSG00000159363	HGNC:30213													
CLCN6	gene	CLCN6	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173				29667327;26658788;25794116;21107136;33217309;16950870		False	3	50;25;25	3.2	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000011021	ENSG00000011021	HGNC:2024													
CLN3	gene	CLN3	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 3 OMIM:204200;neuronal ceroid lipofuscinosis 3 MONDO:0008767						False	3	100;0;0	3.2	False		ENSG00000188603	ENSG00000188603	HGNC:2074													
CLN5	gene	CLN5	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745						False	3	100;0;0	3.2	False		ENSG00000102805	ENSG00000102805	HGNC:2076													
CLN6	gene	CLN6	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 6 OMIM:601780;neuronal ceroid lipofuscinosis 6 MONDO:0011144;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300;neuronal ceroid lipofuscinosis 4A MONDO:0008768						False	3	100;0;0	3.2	False		ENSG00000128973	ENSG00000128973	HGNC:2077													
CLN8	gene	CLN8	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 8 OMIM:600143;neuronal ceroid lipofuscinosis 8 MONDO:0010830;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003;neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391						False	3	100;0;0	3.2	False		ENSG00000182372	ENSG00000182372	HGNC:2079													
CTSD	gene	CTSD	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 10 OMIM:610127;neuronal ceroid lipofuscinosis 10 MONDO:0012414						False	3	100;0;0	3.2	False		ENSG00000117984	ENSG00000117984	HGNC:2529													
CTSF	gene	CTSF	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362;neuronal ceroid lipofuscinosis 13 MONDO:0014147				23297359;25274848		False	3	100;0;0	3.2	False		ENSG00000174080	ENSG00000174080	HGNC:2531													
DNAJC5	gene	DNAJC5	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350;neuronal ceroid lipofuscinosis 4B MONDO:0008083						False	3	100;0;0	3.2	False		ENSG00000101152	ENSG00000101152	HGNC:16235													
GRN	gene	GRN	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	"Ceroid lipofuscinosis, neuronal, 11	OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866"				22608501;27021778;28000352;28404863;30922528;31855245		False	3	67;33;0	3.2	False		ENSG00000030582	ENSG00000030582	HGNC:4601													
KCTD7	gene	KCTD7	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721						False	3	100;0;0	3.2	False		ENSG00000243335	ENSG00000243335	HGNC:21957													
MFSD8	gene	MFSD8	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 7 OMIM:610951;neuronal ceroid lipofuscinosis 7 MONDO:0012588						False	3	100;0;0	3.2	False		ENSG00000164073	ENSG00000164073	HGNC:28486													
PPT1	gene	PPT1	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1 OMIM:256730;neuronal ceroid lipofuscinosis 1 MONDO:0009744						False	3	100;0;0	3.2	False		ENSG00000131238	ENSG00000131238	HGNC:9325													
TPP1	gene	TPP1	Expert Review Green;London North GLH;NHS GMS	Neuronal ceroid lipofuscinosis		Metabolic	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 2 OMIM:204500;neuronal ceroid lipofuscinosis 2 MONDO:0008769						False	3	100;0;0	3.2	False		ENSG00000166340	ENSG00000166340	HGNC:2073