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
ACR	gene	ACR	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				37004249		False	1	0;0;100	1.157	False		ENSG00000100312	ENSG00000100312	HGNC:126													
ASIC5	gene	ASIC5	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Unexplained recurrent pregnancy loss				PMID: 34395479		False	1	0;50;50	1.157	True		ENSG00000256394	ENSG00000256394	HGNC:17537													
C1orf146	gene	C1orf146	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Infertility disorder, MONDO:0005047, C1orf146-related				40374915;37270785		False	1	0;0;100	1.157	True		ENSG00000203910	ENSG00000203910	HGNC:24032													
CCDC189	gene	CCDC189	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Spermatogenic failure, MONDO:0004983, CCDC189-related				40759592		False	1	0;0;100	1.157	True		ENSG00000196118	ENSG00000196118	HGNC:28078													
CHRNA1	gene	CHRNA1	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Multiple pterygium syndrome, lethal type, MIM# 253290				23037934;18252226		False	1	0;0;100	1.157	True		ENSG00000138435	ENSG00000138435	HGNC:1955													
CT55	gene	CT55	Literature	Infertility and Recurrent Pregnancy Loss			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spermatogenic failure MONDO:0004983				36481789		False	1	0;0;100	1.157	False		ENSG00000169551	ENSG00000169551	HGNC:26047													
KIF14	gene	KIF14	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 12, MIM# 616258				24128419;30388224		False	1	50;0;50	1.157	True		ENSG00000118193	ENSG00000118193	HGNC:19181													
NUP210L	gene	NUP210L	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				20034429;33332558		False	1	0;0;100	1.157	False		ENSG00000143552	ENSG00000143552	HGNC:29915													
NXF3	gene	NXF3	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spermatogenic failure, MONDO:0004983, NXF3-related				40624043		False	1	0;0;100	1.157	True		ENSG00000147206	ENSG00000147206	HGNC:8073													
PACRG	gene	PACRG	Expert Review Red;Victorian Clinical Genetics Services	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Spermatogenic failure, MONDO:0004983, PACRG-related				40298292;34089056		False	1	0;0;100	1.157	True		ENSG00000112530	ENSG00000112530	HGNC:19152													
PDCD2	gene	PDCD2	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Non-immune hydrops fetalis, MONDO:0009369;Recurrent pregnancy loss susceptibility, MONDO:0000144				40208938		False	1	0;50;50	1.157	True		ENSG00000071994	ENSG00000071994	HGNC:8762													
PDHA2	gene	PDHA2	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Spermatogenic failure 70, MIM# 619828				29581481;35172124		False	1	50;0;50	1.157	True		ENSG00000163114	ENSG00000163114	HGNC:8807													
PIEZO1	gene	PIEZO1	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Lymphatic malformation 6, MIM# 616843				33772059;30244526;26333996		False	1	50;0;50	1.157	True		ENSG00000103335	ENSG00000103335	HGNC:28993													
SCN5A	gene	SCN5A	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BOTH monoallelic and biallelic, autosomal or pseudoautosomal					33772059;32421437;23571586;15184283		False	1	50;0;50	1.157	True		ENSG00000183873	ENSG00000183873	HGNC:10593													
SMC1B	gene	SMC1B	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Infertility disorder, MONDO:0005047, SMC1B-related				40180776;27603904		False	1	0;0;100	1.157	False		ENSG00000077935	ENSG00000077935	HGNC:11112													
SPACA1	gene	SPACA1	Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				34172998;22949614		False	1	0;0;100	1.157	False		ENSG00000118434	ENSG00000118434	HGNC:14967													
SPINK2	gene	SPINK2	Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				28554943		False	1	0;0;100	1.157	False		ENSG00000128040	ENSG00000128040	HGNC:11245													
STIL	gene	STIL	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Primary microcephaly 7, autosomal recessive, MIM# 612703				29230157;33772059		False	1	0;50;50	1.157	True		ENSG00000123473	ENSG00000123473	HGNC:10879													
TAF4B	gene	TAF4B	Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				24431330;15774719		False	1	0;0;100	1.157	False		ENSG00000141384	ENSG00000141384	HGNC:11538													
TCFL5	gene	TCFL5	Literature	Infertility and Recurrent Pregnancy Loss			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Oligoasthenoteratozoospermia MONDO:0850098				PMID: 40711600		False	1	0;0;100	1.157	False		ENSG00000101190	ENSG00000101190	HGNC:11646													
TSGA10	gene	TSGA10	Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				28905369		False	1	0;0;100	1.157	False		ENSG00000135951	ENSG00000135951	HGNC:14927													
TTN	gene	TTN	Expert Review Red;Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contracture syndrome, MONDO:0017436				36977548;38148006;29575618		False	1	50;0;50	1.157	True		ENSG00000155657	ENSG00000155657	HGNC:12403													
ZNF185	gene	ZNF185	Literature	Infertility and Recurrent Pregnancy Loss			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Azoospermia MONDO:0100459, ZNF185-related				39267058		False	1	0;0;100	1.157	False		ENSG00000147394	ENSG00000147394	HGNC:12976													
ZNF597	gene	ZNF597	Expert Review Red;Literature;Research	Infertility and Recurrent Pregnancy Loss			Other					28157578;28157578;2576657		False	1	0;0;100	1.157	True	Other	ENSG00000167981	ENSG00000167981	HGNC:26573													
ZPBP	gene	ZPBP	Literature	Infertility and Recurrent Pregnancy Loss			BIALLELIC, autosomal or pseudoautosomal	spermatogenic failure MONDO:0004983				31985809;17664285		False	1	0;0;100	1.157	False		ENSG00000042813	ENSG00000042813	HGNC:15662													
