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
CHUK	gene	CHUK	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339;Cocoon syndrome MIM#613630			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	25691407;20961246;10195895;10195896;29523099;28513979		False	2	0;100;0	0.76	True		ENSG00000213341	ENSG00000213341	HGNC:1974													
FMN1	gene	FMN1	Expert list;Expert Review Amber	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	oligosyndactyly;radioulnar synostosis;hearing loss;renal defects			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	20610440;19383632;15202026		False	2	0;100;0	0.76	True		ENSG00000248905	ENSG00000248905	HGNC:3768													
HDAC4	gene	HDAC4	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Albright hereditary osteodystrophy-like syndrome;Brachydactyly-intellectual disability			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	24715439;20691407;31209962		False	2	50;50;0	0.76	False		ENSG00000068024	ENSG00000068024	HGNC:14063													
HOXD12	gene	HOXD12	Expert Review Amber;Other	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Clubfoot (non-syndromic) MONDO:0007342			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	38663984		False	2	50;50;0	0.76	True	Other	ENSG00000170178	ENSG00000170178	HGNC:5135