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
CLCN7	gene	CLCN7	Expert Review Amber;Literature	Lysosomal Storage Disorder		Metabolic conditions	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541			Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271	31155284		False	2	0;100;0	1.13	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000103249	ENSG00000103249	HGNC:2025													
HYAL1	gene	HYAL1	Expert Review Amber;Victorian Clinical Genetics Services	Lysosomal Storage Disorder		Metabolic conditions	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093			Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271	10339581;18344557;21559944		False	2	0;100;0	1.13	True		ENSG00000114378	ENSG00000114378	HGNC:5320													
SGMS1	gene	SGMS1	Expert Review Amber;Other	Lysosomal Storage Disorder		Metabolic conditions	BIALLELIC, autosomal or pseudoautosomal	complex neurodevelopmental disorder MONDO:0100038			Lysosomal storage disorder;MONDO:0002561; Visceromegaly;HP:0003271			False	2	0;100;0	1.13	True		ENSG00000198964	ENSG00000198964	HGNC:29799