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
CREBBP	gene	CREBBP	Expert Review Red;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rubinstein-Taybi syndrome 1, 180849						False	1	0;0;0	1.25	False		ENSG00000005339	ENSG00000005339	HGNC:2348													
DACT1	gene	DACT1	Literature;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Townes-Brocks syndrome 2,617466; TBS2				28054444;22610794;19701191		False	1	0;0;100	1.25	False		ENSG00000165617	ENSG00000165617	HGNC:17748													
FANCM	gene	FANCM	Eligibility statement prior genetic testing;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi Anemia				16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene;19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA;25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia.		False	1	50;0;50	1.25	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
NPM1	gene	NPM1	Expert list;Expert Review Red	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	Unknown	radial ray defects;short stature;nail dsytrophy;bone marrow failure				31570891		False	1	100;0;0	1.25	False		ENSG00000181163	ENSG00000181163	HGNC:7910													
PITX1	gene	PITX1	Expert Review Red;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Liebenberg syndrome;  Radially deviated wrists 						False	1	100;0;0	1.25	False		ENSG00000069011	ENSG00000069011	HGNC:9004													
PUF60	gene	PUF60	Expert Review;Expert Review Red	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Verheij syndrome, 615583						False	1	100;0;0	1.25	False		ENSG00000179950	ENSG00000179950	HGNC:17042													
SAMD9	gene	SAMD9	Expert Review Red;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	MIRAGE syndrome 617053						False	1	0;0;100	1.25	False		ENSG00000205413	ENSG00000205413	HGNC:1348