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
ALX4	gene	ALX4	Expert Review Green;NHS GMS	Test panel testing 2020-07-27			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Parietal foramina 2, (AD), 609597;Frontonasal dysplasia 2, (AR), 613451;Parietal foramina				29215649;22829454;29681084		False	3	0;100;0	1.15	False		ENSG00000052850	ENSG00000052850	HGNC:450													
ARSB	gene	ARSB	Expert Review Amber;NHS GMS	Test panel testing 2020-07-27			Other	Mucopolysaccharidosis VI (MPS6) 253200						False	2	0;0;100	1.15	False		ENSG00000113273	ENSG00000113273	HGNC:714													
PRSS1	gene	PRSS1	Expert Review Amber;NHS GMS	Test panel testing 2020-07-27			BOTH monoallelic and biallelic, autosomal or pseudoautosomal							False	2	100;0;0	1.15	True		ENSG00000204983	ENSG00000204983	HGNC:9475													
NOP56_GGCCTG	str	NOP56	Expert Review Amber;Expert list	Test panel testing 2020-07-27			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spinocerebellar ataxia 36 614153						False	2	100;0;0	1.15	False		ENSG00000101361	ENSG00000101361	HGNC:15911	22	2633380	2633403	2652734	2652757	GGCCTG	15	650					
ISCA-37390-Loss	region		Expert Review Green;Expert Review	Test panel testing 2020-07-27			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	3	100;0;0	1.15	False					5			37695	11347150				3		80	small	5p15 terminal (Cri du chat syndrome) region Loss