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
ABCB7	gene	ABCB7	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310						False	2	0;0;100	0.335	False		ENSG00000131269	ENSG00000131269	HGNC:48													
BAAT	gene	BAAT	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hypercholanemia, familial, 607748;Hypercholanemia						False	2	0;0;100	0.335	False		ENSG00000136881	ENSG00000136881	HGNC:932													
COX4I2	gene	COX4I2	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714						False	2	0;0;100	0.335	False		ENSG00000131055	ENSG00000131055	HGNC:16232													
HOXD13	gene	HOXD13	Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes		Synpolydactyly, type II, 186000						False	2	100;0;0	0.335	False		ENSG00000128714	ENSG00000128714	HGNC:5136													
PUS1	gene	PUS1	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Myopathy, Lactic Acidosis, and Sideroblastic Anemia;Mitochondrialmyopathyandsideroblasticanemia1,600462						False	2	0;100;0	0.335	False		ENSG00000177192	ENSG00000177192	HGNC:15508													
RAD51C	gene	RAD51C	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group O, 613390				20400963;22167183		False	2	100;0;0	0.335	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
TERT	gene	TERT	Illumina TruGenome Clinical Sequencing Services;UKGTN	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Aplastic Anemia						False	2	100;0;0	0.335	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
XRCC2	gene	XRCC2	Expert Review Amber;UKGTN	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi Anaemia				J Med Genet. 2012 Mar 49(3):184-6 PMID: 22232082;27760710;27208205;22464251;22232082		False	2	100;0;0	0.335	False		ENSG00000196584	ENSG00000196584	HGNC:12829													
YARS2	gene	YARS2	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Myopathy,lacticacidosis,andsideroblasticanemia2,613561						False	2	100;0;0	0.335	False		ENSG00000139131	ENSG00000139131	HGNC:24249													
ZIC3	gene	ZIC3	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Non-Fanconi anaemia	DNA repair disorders	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	VACTERL Association, X-linked;Heterotaxy, visceral, 1, X-linked 306955						False	2	0;0;0	0.335	False		ENSG00000156925	ENSG00000156925	HGNC:12874