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
GDF6	gene	GDF6	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;Klippel-Feil syndrome 1, autosomal dominant 118100						False	2	0;25;75	1.37	False		ENSG00000156466	ENSG00000156466	HGNC:4221													
RPS28	gene	RPS28	Expert Review;Expert Review Amber	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164; two cases only described to date;Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164				PMID 24942156		False	2	0;0;100	1.37	False		ENSG00000233927	ENSG00000233927	HGNC:10418