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 list;Expert Review Green	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427;Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428						False	3	100;0;0	4.2	False		ENSG00000162551	ENSG00000162551	HGNC:438													
CYP27B1	gene	CYP27B1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Vitamin D-dependent rickets, type I (264700)				9486994;9415400;30282619		False	3	100;0;0	4.2	False		ENSG00000111012	ENSG00000111012	HGNC:2606													
CYP2R1	gene	CYP2R1	Expert Review Green;Radboud University Medical Center, Nijmegen	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Rickets due to defect in vitamin D 25-hydroxylation  (600081)				22855339;15128933;28548312;25942481		False	3	100;0;0	4.2	False		ENSG00000186104	ENSG00000186104	HGNC:20580													
DMP1	gene	DMP1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets, AR (241520)				17033625;15590631;22695891;20213538;17033621		False	3	100;0;0	4.2	False		ENSG00000152592	ENSG00000152592	HGNC:2932													
ENPP1	gene	ENPP1	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets, autosomal recessive, 2 (613312)				20137773;20137772		False	3	100;0;0	4.2	False		ENSG00000197594	ENSG00000197594	HGNC:3356													
FAH	gene	FAH	Expert list;Expert Review Green;NHS GMS	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type I, OMIM:276700, MONDO:0010161						False	3	100;0;0	4.2	False		ENSG00000103876	ENSG00000103876	HGNC:3579													
FAM20C	gene	FAM20C	Emory Genetics Laboratory;Expert list;Expert Review Green;Literature	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Raine syndrome (259775)				29751744;17924334;19250384;20825432		False	3	100;0;0	4.2	False		ENSG00000177706	ENSG00000177706	HGNC:22140													
FGF23	gene	FGF23	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypophosphatemic rickets, autosomal dominant (193100)				11062477;28383812;26792657;11062477		False	3	100;0;0	4.2	False		ENSG00000118972	ENSG00000118972	HGNC:3680													
OCRL	gene	OCRL	Expert list;Expert Review Green	Hypophosphataemia or rickets		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, 309000				19773212		False	3	100;0;0	4.2	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
PHEX	gene	PHEX	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypophosphataemia or rickets		Endocrinology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Hypophosphatemic rickets, X-linked dominant (307800)				7550339;9106524;19219621;29505567;22695891;26051471		False	3	100;0;0	4.2	False		ENSG00000102174	ENSG00000102174	HGNC:8918													
SLC34A1	gene	SLC34A1	Expert Review Green;Literature	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)				12324554;9560283;25050900		False	3	100;0;0	4.2	False		ENSG00000131183	ENSG00000131183	HGNC:11019													
SLC34A3	gene	SLC34A3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets with hypercalciuria (241530)				16358215;16358214;16849419		False	3	100;0;0	4.2	False		ENSG00000198569	ENSG00000198569	HGNC:20305													
VDR	gene	VDR	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hypophosphataemia or rickets		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Rickets, vitamin D-resistant, type IIA (277440)						False	3	100;0;0	4.2	False		ENSG00000111424	ENSG00000111424	HGNC:12679													
CLCN5	gene	CLCN5	Emory Genetics Laboratory;Expert list;Expert Review Amber	Hypophosphataemia or rickets		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hypophosphatemic rickets (300554)				28383812;9187673;9596078		False	2	0;100;0	4.2	False		ENSG00000171365	ENSG00000171365	HGNC:2023													
CYP3A4	gene	CYP3A4	Expert Review Amber;NHS GMS	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					29461981		False	2	0;0;100	4.2	False		ENSG00000160868	ENSG00000160868	HGNC:2637													
FGFR1	gene	FGFR1	Emory Genetics Laboratory;Expert Review Red;Literature	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteoglophonic dysplasia (166250);Hypophosphatemia				15625620;20236123		False	1	50;0;50	4.2	False		ENSG00000077782	ENSG00000077782	HGNC:3688													
SGK3	gene	SGK3	Expert Review Red;Literature	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypophosphatemic rickets				31821448		False	1	0;0;100	4.2	False		ENSG00000104205	ENSG00000104205	HGNC:10812													
SLC9A3R1	gene	SLC9A3R1	Expert Review Red;Radboud University Medical Center, Nijmegen	Hypophosphataemia or rickets		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)				18784102;25296721;19073985		False	1	0;50;50	4.2	False		ENSG00000109062	ENSG00000109062	HGNC:11075