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
ALPL	gene	ALPL	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatasia, infantile, MIM# 241500						False	3	100;0;0	0.53	True		ENSG00000162551	ENSG00000162551	HGNC:438													
CLCN5	gene	CLCN5	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypophosphatemic rickets, MIM# 300554				8559248;9596078		False	3	50;50;0	0.53	True		ENSG00000171365	ENSG00000171365	HGNC:2023													
CTNS	gene	CTNS	Expert list;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Cystinosis, nephropathic MIM#219800				20301574;9537412;31068690		False	3	100;0;0	0.53	True		ENSG00000040531	ENSG00000040531	HGNC:2518													
CYP27B1	gene	CYP27B1	Expert List;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Vitamin D-dependent rickets, type I MIM#264700				9486994, 9415400, 12050193, 27473561, 34492747, 33823104		False	3	0;0;0	0.53	False		ENSG00000111012	ENSG00000111012	HGNC:2606													
CYP2R1	gene	CYP2R1	Expert list;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rickets due to defect in vitamin D 25-hydroxylation MIM#600081				15128933;28548312		False	3	100;0;0	0.53	True		ENSG00000186104	ENSG00000186104	HGNC:20580													
DMP1	gene	DMP1	Expert List;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets MIM#241520				17033625, 22695891, 20213538, 17033621, 32920683, 15590631		False	3	100;0;0	0.53	False		ENSG00000152592	ENSG00000152592	HGNC:2932													
ENPP1	gene	ENPP1	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312				20016754;20137773;20137772		False	3	100;0;0	0.53	True		ENSG00000197594	ENSG00000197594	HGNC:3356													
FAH	gene	FAH	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type I, MIM# 276700						False	3	100;0;0	0.53	False		ENSG00000103876	ENSG00000103876	HGNC:3579													
FAM20C	gene	FAM20C	Expert list;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	"Raine syndrome, MIM#	259775"						False	3	100;0;0	0.53	True		ENSG00000177706	ENSG00000177706	HGNC:22140													
FGF23	gene	FGF23	Expert List;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autosomal dominant hypophosphatemic rickets MONDO:0008660				11062477, 34444516		False	3	100;0;0	0.53	False	Other	ENSG00000118972	ENSG00000118972	HGNC:3680													
OCRL	gene	OCRL	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, MIM# 309000				19773212		False	3	100;0;0	0.53	True		ENSG00000122126	ENSG00000122126	HGNC:8108													
PHEX	gene	PHEX	Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Hypophosphatemic rickets, MIM#307800				12727977;30682568		False	3	100;0;0	0.53	True		ENSG00000102174	ENSG00000102174	HGNC:8918													
SLC34A1	gene	SLC34A1	Expert List;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM#612286				12324554, 25050900, 9560283		False	3	100;0;0	0.53	False		ENSG00000131183	ENSG00000131183	HGNC:11019													
SLC34A3	gene	SLC34A3	Expert Review Green;Victorian Clinical Genetics Services	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hypophosphataemic rickets with hypercalciuria, (MIM#241530)				32524022		False	3	100;0;0	0.53	True		ENSG00000198569	ENSG00000198569	HGNC:20305													
VDR	gene	VDR	Expert List;Expert Review Green	Hypophosphataemia or rickets		Endocrine disorders; Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Rickets, vitamin D-resistant, type IIA, MIM# 277440				2849209, 9005998, 17970811		False	3	100;0;0	0.53	False		ENSG00000111424	ENSG00000111424	HGNC:12679