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
COPB1	gene	COPB1	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly				33632302		False	2	0;100;0	7.10	False		ENSG00000129083	ENSG00000129083	HGNC:2231													
CTDP1	gene	CTDP1	Expert Review Amber;Radboud University Medical Center, Nijmegen	Bilateral congenital or childhood onset cataracts		Ophthalmology		Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402				14517542;24690360		False	2	0;67;33	7.10	False		ENSG00000060069	ENSG00000060069	HGNC:2498													
DYRK1A	gene	DYRK1A	Expert list;Expert Review Amber	Bilateral congenital or childhood onset cataracts		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Mental retardation, autosomal dominant 7, 614104				28053047;25944381;32838606;33562844		False	2	0;100;0	7.10	False		ENSG00000157540	ENSG00000157540	HGNC:3091													
GALM	gene	GALM	Expert list;Expert Review Amber	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Galactosemia IV, 618881				30451973;30910422		False	2	0;100;0	7.10	False		ENSG00000143891	ENSG00000143891	HGNC:24063													
GLS	gene	GLS	Expert list;Expert Review Amber	Bilateral congenital or childhood onset cataracts		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339				30239721		False	2	0;100;0	7.10	False		ENSG00000115419	ENSG00000115419	HGNC:4331													
LEMD2	gene	LEMD2	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Cataract 46, juvenile-onset, OMIM:212500				26788539;31061923		False	2	0;100;0	7.10	False		ENSG00000161904	ENSG00000161904	HGNC:21244													
PANK4	gene	PANK4	Expert list;Expert Review Amber	Bilateral congenital or childhood onset cataracts		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital posterior cataract				30585370		False	2	0;100;0	7.10	False		ENSG00000157881	ENSG00000157881	HGNC:19366													
PGRMC1	gene	PGRMC1	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Isolated paediatric cataract;cataract, MONDO:0005129				33867527;23783460		False	2	0;100;0	7.10	False		ENSG00000101856	ENSG00000101856	HGNC:16090													
PSMC3	gene	PSMC3	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Deafness;cataract				32500975		False	2	0;100;0	7.10	False		ENSG00000165916	ENSG00000165916	HGNC:9549													
RDH11	gene	RDH11	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118				24916380;34988992;41459630;41904678		False	2	100;0;0	7.10	False		ENSG00000072042	ENSG00000072042	HGNC:17964													
RIC1	gene	RIC1	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	CATIFA syndrome 618761				27878435;31932796		False	2	0;0;100	7.10	False		ENSG00000107036	ENSG00000107036	HGNC:17686													
SIPA1L3	gene	SIPA1L3	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Cataract 45				25804400;26231217;27993984;28951961		False	2	0;0;0	7.10	False		ENSG00000105738	ENSG00000105738	HGNC:23801													
SMG8	gene	SMG8	Expert Review Amber;Literature	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;Microcephaly;Short stature;Facial dysmorphism;Cataract				31130284;33242396		False	2	0;100;0	7.10	False		ENSG00000167447	ENSG00000167447	HGNC:25551													
TKFC	gene	TKFC	Expert list;Expert Review Amber	Bilateral congenital or childhood onset cataracts		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Triokinase and FMN cyclase deficiency syndrome, 618805				32004446		False	2	0;100;0	7.10	False		ENSG00000149476	ENSG00000149476	HGNC:24552