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
AARS	gene	AARS	Expert Review Amber;Literature	Chromosome Breakage Disorders		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Trichothiodystrophy, MONDO:0018053;Trichothiodystrophy 8, nonphotosensitive	619691"				33909043		False	2	0;100;0	1.21	True		ENSG00000090861	ENSG00000090861	HGNC:20													
GTF2E2	gene	GTF2E2	Expert Review Amber;Victorian Clinical Genetics Services	Chromosome Breakage Disorders		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841				26996949		False	2	0;100;0	1.21	True		ENSG00000197265	ENSG00000197265	HGNC:4651													
RFWD3	gene	RFWD3	Expert list;Expert Review Amber	Chromosome Breakage Disorders		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Fanconi anemia, complementation group W, MIM#	617784"				28691929;38058754		False	2	0;50;50	1.21	True		ENSG00000168411	ENSG00000168411	HGNC:25539													
RMI2	gene	RMI2	Expert Review Amber;Victorian Clinical Genetics Services	Chromosome Breakage Disorders		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bloom-like syndrome				27977684		False	2	0;100;0	1.21	True		ENSG00000175643	ENSG00000175643	HGNC:28349													
XRCC2	gene	XRCC2	Expert list;Expert Review Amber	Chromosome Breakage Disorders		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group U, MIM# 617247				27208205;22232082;11118202		False	2	0;100;0	1.21	True		ENSG00000196584	ENSG00000196584	HGNC:12829