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
EHHADH	gene	EHHADH	Expert;Expert Review Amber;NHS GMS	Renal tubulopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine				24401050;27160910		False	2	50;0;50	5.11	True	Other - please provide details in the comments	ENSG00000113790	ENSG00000113790	HGNC:3247													
ERCC1	gene	ERCC1	Expert Review Amber;Literature	Renal tubulopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	hepatorenal syndrome, MONDO:0001382				40684071		False	2	100;0;0	5.11	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
FOXI1	gene	FOXI1	Expert Review;Expert Review Amber;Literature;NHS GMS	Renal tubulopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	deafness;renal tubular acidosis;Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number);Enlarged vestibular aqueducts, 6007910				29242249		False	2	50;50;0	5.11	False		ENSG00000168269	ENSG00000168269	HGNC:3815													
FXYD2	gene	FXYD2	Expert Review Amber;NHS GMS	Renal tubulopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypomagnesemia 2, renal, 154020				11062458;25765846		False	2	100;0;0	5.11	False		ENSG00000137731	ENSG00000137731	HGNC:4026													
GNAS	gene	GNAS	Expert Review Amber;NHS GMS	Renal tubulopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.				30312418		False	2	0;100;0	5.11	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
WNK1	gene	WNK1	Expert Review Amber;NHS GMS	Renal tubulopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pseudohypoaldosteronism, type IIC, OMIM:614492				11498583		False	2	100;0;0	5.11	False		ENSG00000060237	ENSG00000060237	HGNC:14540