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
CHAF1A	gene	CHAF1A	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Oculo-auriculo-vertebral spectrum				39333427		False	2	0;100;0	7.41	False		ENSG00000167670	ENSG00000167670	HGNC:1910													
COL5A1	gene	COL5A1	Expert Review;Expert Review Amber	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ehlers-Danlos syndrome, classic type, 1, OMIM:130000;Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567				21611149;20847697		False	2	0;100;0	7.41	False		ENSG00000130635	ENSG00000130635	HGNC:2209													
DDR2	gene	DDR2	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Warburg-Cinotti syndrome, OMIM:618175				30449416		False	2	100;0;0	7.41	False		ENSG00000162733	ENSG00000162733	HGNC:2731													
EIF3A	gene	EIF3A	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	syndromic disease, MONDO:0002254				41033306		False	2	100;0;0	7.41	False		ENSG00000107581	ENSG00000107581	HGNC:3271													
EIF3B	gene	EIF3B	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	syndromic disease, MONDO:0002254				41033306		False	2	100;0;0	7.41	False		ENSG00000106263	ENSG00000106263	HGNC:3280													
FGF5	gene	FGF5	Expert Review Amber;Literature;NHS GMS	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypertrichosis;long eyelashes				PMID: 24989505		False	2	50;50;0	7.41	False		ENSG00000138675	ENSG00000138675	HGNC:3683													
KCTD15	gene	KCTD15	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	frontonasal dysplasia, MONDO:0016643				38296633		False	2	0;100;0	7.41	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000153885	ENSG00000153885	HGNC:23297													
SENP7	gene	SENP7	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis multiplex congenita, MONDO:0015168;Recurrent infections, HP:0002719				37460201;38972567;39763084		False	2	100;0;0	7.41	False		ENSG00000138468	ENSG00000138468	HGNC:30402													
SPRTN	gene	SPRTN	Expert Review Amber;Literature;NHS GMS	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ruijs-Aalfs syndrome, OMIM:616200;progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527				12503110;25261934;25501849		False	2	100;0;0	7.41	False		ENSG00000010072	ENSG00000010072	HGNC:25356													
WNT9B	gene	WNT9B	Expert Review Amber;Literature	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Renal agenesis/hypoplasia/dysplasia				34145744		False	2	0;100;0	7.41	False		ENSG00000158955	ENSG00000158955	HGNC:12779