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
PTEN	gene	PTEN	Expert Review Amber;Other;Radboud University Medical Center, Nijmegen	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	VATER association with macrocephaly and ventriculomegaly,276950;VACTERL ASSOCIATION WITH HYDROCEPHALUS ; VACTERL-H				11748304		False	2	50;0;50	1.25	False		ENSG00000171862	ENSG00000171862	HGNC:9588													
RAD21	gene	RAD21	Expert Review Amber;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cornelia de Lange syndrome 4, OMIM:614701				22633399;30716475;24378232;27882533;27620904;31334757;32193685		False	2	100;0;0	1.25	False		ENSG00000164754	ENSG00000164754	HGNC:9811													
RAD51C	gene	RAD51C	Eligibility statement prior genetic testing;Expert list;Expert Review Amber;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, complementation group O 613390				20400963;22232082		False	2	67;33;0	1.25	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
RPL15	gene	RPL15	Expert list;Expert Review Amber;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Diamond-Blackfan anemia 12; upper limb malformation; Triphalangeal thumbs				19438500;23812780		False	2	67;0;33	1.25	False		ENSG00000174748	ENSG00000174748	HGNC:10306													
RPL26	gene	RPL26	Expert list;Expert Review Amber;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond-Blackfan anemia 11; Hypoplasia or aplasia of radius, unilateral; Absent thumb, bilateral						False	2	50;0;50	1.25	False		ENSG00000161970	ENSG00000161970	HGNC:10327													
RPS29	gene	RPS29	Expert Review Amber;Other	Radial dysplasia	Dysmorphic disorders	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond-Blackfan anemia 13				24829207		False	2	50;50;0	1.25	False		ENSG00000213741	ENSG00000213741	HGNC:10419