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
CD96	gene	CD96	Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services	Polydactyly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	C syndrome, MIM#211750			Polydactyly;HP:0010442	17847009		False	2	0;100;0	0.281	True		ENSG00000153283	ENSG00000153283	HGNC:16892													
EFCAB7	gene	EFCAB7	Expert Review Amber;Literature	Polydactyly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Polydactyly (MONDO:0021003), EFCAB7-related			Polydactyly;HP:0010442	PMID: 37684519		False	2	0;100;0	0.281	True		ENSG00000203965	ENSG00000203965	HGNC:29379													
FAM92A	gene	FAM92A	Expert list;Expert Review Amber	Polydactyly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Polydactyly, postaxial, type A9, MIM#	618219"			Polydactyly;HP:0010442	30395363		False	2	0;100;0	0.281	True		ENSG00000188343	ENSG00000188343	HGNC:30452													
HYLS1	gene	HYLS1	Expert Review Amber;Victorian Clinical Genetics Services	Polydactyly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680)			Polydactyly;HP:0010442	15843405;18648327;19400947;19656802;32509774;26830932		False	2	0;100;0	0.281	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
PDE6D	gene	PDE6D	Expert Review Amber;Victorian Clinical Genetics Services	Polydactyly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 22, OMIM #615665			Polydactyly;HP:0010442	24166846;30423442		False	2	0;100;0	0.281	True		ENSG00000156973	ENSG00000156973	HGNC:8788													
SLC30A7	gene	SLC30A7	Expert Review Amber;Literature	Polydactyly		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Joubert syndrome (MONDO:0018772), SLC30A7-related			Polydactyly;HP:0010442	PMID: 35751429		False	2	0;100;0	0.281	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
TOPORS	gene	TOPORS	Expert Review Amber;Literature	Polydactyly		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MONDO:0005308;ciliopathy;postaxial polydactyly;multiple lingual hamartomas;dysmorphic features			Polydactyly;HP:0010442	34132027		False	2	0;100;0	0.281	True		ENSG00000197579	ENSG00000197579	HGNC:21653													
