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
ALG8	gene	ALG8	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Liver Disease 3 (617874);Congenital disorder of glycosylation, type Ih (608104)				28375157;15235028		False	3	100;0;0	1.31	False		ENSG00000159063	ENSG00000159063	HGNC:23161													
CC2D2A	gene	CC2D2A	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9 (612285);Meckel syndrome 6 (612284);COACH syndrome (216360);congenital hepatic fibrosis				18513680;19574260		False	3	100;0;0	1.31	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
DGUOK	gene	DGUOK	Expert list;Expert Review Green;Literature	Ductal plate malformation			BIALLELIC, autosomal or pseudoautosomal	Portal hypertension, noncirrhotic (617068)				30234759;17073823;26874653		False	3	50;50;0	1.31	False		ENSG00000114956	ENSG00000114956	HGNC:2858													
DNAJB11	gene	DNAJB11	Expert Review Green;NHS GMS	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 6 with or without polycystic liver disease (618061)				29706351		False	3	100;0;0	1.31	False		ENSG00000090520	ENSG00000090520	HGNC:14889													
GANAB	gene	GANAB	Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 3 (600666)				29243290;27259053;28862642		False	3	100;0;0	1.31	False		ENSG00000089597	ENSG00000089597	HGNC:4138													
LRP5	gene	LRP5	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic liver disease 4 with or without kidney cysts (617875)				25920554		False	3	100;0;0	1.31	False		ENSG00000162337	ENSG00000162337	HGNC:6697													
PKD1	gene	PKD1	Eligibility statement prior genetic testing;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)				8554072;3178424;9211343		False	3	100;0;0	1.31	False		ENSG00000008710	ENSG00000008710	HGNC:9008													
PKD2	gene	PKD2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)				29321346		False	3	100;0;0	1.31	False		ENSG00000118762	ENSG00000118762	HGNC:9009													
PKHD1	gene	PKHD1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200				11135065;30211211;11919560;28862642;11337358		False	3	100;0;0	1.31	False		ENSG00000170927	ENSG00000170927	HGNC:9016													
PRKCSH	gene	PRKCSH	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Liver Disease 1 with or without kidney cysts (174050)				11047756;29038287;12529853;12577059		False	3	100;0;0	1.31	False		ENSG00000130175	ENSG00000130175	HGNC:9411													
RPGRIP1L	gene	RPGRIP1L	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7 (611560);Meckel syndrome 5 (611561);COACH syndrome (216360)				17558409;19574260		False	3	100;0;0	1.31	False		ENSG00000103494	ENSG00000103494	HGNC:29168													
SEC63	gene	SEC63	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Liver Disease 2 with or without kidney cysts (617004)				15133510		False	3	100;0;0	1.31	False		ENSG00000025796	ENSG00000025796	HGNC:21082													
TMEM67	gene	TMEM67	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Ductal plate malformation			BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 3 (607361);Nephronophthisis 11 (613550);Joubert syndrome 6 (310688);{Bardet-Biedl syndrome 14, modifier of} (615991);COACH syndrome (216360);congenital hepatic fibrosis				19058225;16415887;28680603;26191240		False	3	100;0;0	1.31	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TULP3	gene	TULP3	Expert list;Expert Review Green	Ductal plate malformation			BIALLELIC, autosomal or pseudoautosomal	Hepatorenocardiac degenerative fibrosis, OMIM:619902				35397207;36276950;36460032		False	3	100;0;0	1.31	False		ENSG00000078246	ENSG00000078246	HGNC:12425