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	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	C syndrome, MIM#211750			Limb abnormality;HP:0040064	17847009		False	2	0;100;0	0.88	True		ENSG00000153283	ENSG00000153283	HGNC:16892													
CHUK	gene	CHUK	Expert Review Amber;Expert list;Victorian Clinical Genetics Services	Limb and Digital Malformations SuperPanel		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			Limb abnormality;HP:0040064	25691407;20961246;10195895;10195896;29523099;28513979		False	2	0;100;0	0.88	True		ENSG00000213341	ENSG00000213341	HGNC:1974													
EFCAB7	gene	EFCAB7	Expert Review Amber;Literature	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Polydactyly (MONDO:0021003), EFCAB7-related			Limb abnormality;HP:0040064	PMID: 37684519		False	2	0;100;0	0.88	True		ENSG00000203965	ENSG00000203965	HGNC:29379													
FAM92A	gene	FAM92A	Expert Review Amber;Expert list	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Polydactyly, postaxial, type A9, MIM#	618219"			Limb abnormality;HP:0040064	30395363		False	2	0;100;0	0.88	True		ENSG00000188343	ENSG00000188343	HGNC:30452													
FMN1	gene	FMN1	Expert Review Amber;Expert list	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	oligosyndactyly;radioulnar synostosis;hearing loss;renal defects			Limb abnormality;HP:0040064	20610440;19383632;15202026		False	2	0;100;0	0.88	True		ENSG00000248905	ENSG00000248905	HGNC:3768													
HDAC4	gene	HDAC4	Expert Review Amber;Expert list;Victorian Clinical Genetics Services	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Albright hereditary osteodystrophy-like syndrome;Brachydactyly-intellectual disability			Limb abnormality;HP:0040064	24715439;20691407;31209962		False	2	50;50;0	0.88	False		ENSG00000068024	ENSG00000068024	HGNC:14063													
HOXD12	gene	HOXD12	Expert Review Amber;Other	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Clubfoot (non-syndromic) MONDO:0007342			Limb abnormality;HP:0040064	38663984		False	2	50;50;0	0.88	True	Other	ENSG00000170178	ENSG00000170178	HGNC:5135													
HYLS1	gene	HYLS1	Expert Review Amber;Victorian Clinical Genetics Services	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680)			Limb abnormality;HP:0040064	15843405;18648327;19400947;19656802;32509774;26830932		False	2	0;100;0	0.88	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
PDE6D	gene	PDE6D	Expert Review Amber;Victorian Clinical Genetics Services	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 22, OMIM #615665			Limb abnormality;HP:0040064	24166846;30423442		False	2	0;100;0	0.88	True		ENSG00000156973	ENSG00000156973	HGNC:8788													
RAD51	gene	RAD51	Expert Review Amber;Expert Review	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi anaemia, complementation group R, MIM# 617244			Limb abnormality;HP:0040064	26253028;26681308;30907510		False	2	0;100;0	0.88	True		ENSG00000051180	ENSG00000051180	HGNC:9817													
RFWD3	gene	RFWD3	Expert Review Amber;Literature	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia MONDO:0019391			Limb abnormality;HP:0040064	28691929;38058754		False	2	0;100;0	0.88	True		ENSG00000168411	ENSG00000168411	HGNC:25539													
RPS29	gene	RPS29	Expert Review Amber;Victorian Clinical Genetics Services	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 13, MIM# 615909			Limb abnormality;HP:0040064	24829207		False	2	0;100;0	0.88	True		ENSG00000213741	ENSG00000213741	HGNC:10419													
SLC30A7	gene	SLC30A7	Expert Review Amber;Literature	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Joubert syndrome (MONDO:0018772), SLC30A7-related			Limb abnormality;HP:0040064	PMID: 35751429		False	2	0;100;0	0.88	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
TOPORS	gene	TOPORS	Expert Review Amber;Literature	Limb and Digital Malformations SuperPanel		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	MONDO:0005308;ciliopathy;postaxial polydactyly;multiple lingual hamartomas;dysmorphic features			Limb abnormality;HP:0040064	34132027		False	2	0;100;0	0.88	True		ENSG00000197579	ENSG00000197579	HGNC:21653