Primary Ovarian Insufficiency_Premature Ovarian Failure (Version 0.340)

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders

Relevant disorders: Premature ovarian insufficiency, HP:0008209
Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Royal Melbourne Hospital, Rare Disease

Description

This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.

With early onset premature ovarian insufficiency, the following should be considered:
• X chromosome abnormality such as Turner syndrome
• Presence of FMR1 premutation
• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)
• Presence of thyroid or adrenal auto-antibodies

Testing for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.

Please also consider the Differences of Sex Development panel where appropriate depending on clinical features.

Panel Activity

16 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Alison Yeung (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Elena Tucker (Murdoch Children's Research Institute)
Mark Cleghorn (Royal Melbourne Hospital)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

154 Entities

139 reviewed, 81 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 154 Entities
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, progressive, with ovarian failure 615889 Tags
Green Green List (high evidence)	AIRE	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Green Green List (high evidence)	ANKRD31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure, MONDO:0019852, ANKDR31-related Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bloom syndrome MIM#210900 Tags
Green Green List (high evidence)	BMP15	1 review 1 green	Other	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ovarian dysgenesis 2, MIM# 300510 Premature ovarian failure 4, MIM# 300510 Tags
Green Green List (high evidence)	BNC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure 16 MIM#618723 Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group D1 MIM#605724 premature ovarian failure Tags
Green Green List (high evidence)	C14orf39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Premature ovarian failure 18, MIM# 619203 Tags
Green Green List (high evidence)	C17orf53	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ovarian dysgenesis 11, MIM# 620897 Tags new gene name
Green Green List (high evidence)	CCDC155	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Premature ovarian insufficiency Infertility disorder, MONDO:0005047, CCDC155-related Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271 syndromic premature ovarian insufficiency neutropenia cataracts 3-methylglutaconic aciduria neurological dysfunction Tags
Green Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Perrault syndrome 3 614129 Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 17-alpha-hydroxylase, 17,20-lyase deficiency 202110 Tags treatable
Green Green List (high evidence)	CYP19A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatase deficiency 613546 Tags
Green Green List (high evidence)	DAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 7, MIM# 621101 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Woodhouse-Sakati syndrome MIM#241080 Tags
Green Green List (high evidence)	EIF2B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Ovarioleukodystrophy 603896 Tags
Green Green List (high evidence)	EIF2B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Ovarioleukodystrophy 603896 Tags
Green Green List (high evidence)	EIF2B5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Ovarioleukodystrophy 603896 Tags
Green Green List (high evidence)	ESR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Estrogen resistance, MIM# 615363 Tags
Green Green List (high evidence)	FANCM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health QLD Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 15 MIM#618096 Tags
Green Green List (high evidence)	FGF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia 612702 Tags
Green Green List (high evidence)	FGFR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia 147950 Tags
Green Green List (high evidence)	FIGLA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Premature ovarian failure, MIM#612310 Tags
Green Green List (high evidence)	FOXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100 Premature ovarian failure 3,608996 Tags
Green Green List (high evidence)	FSHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypogonadotropic hypogonadism 24 without anosmia 229070 Tags
Green Green List (high evidence)	FSHR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ovarian dysgenesis 1 233300 Ovarian response to FSH stimulation 276400 Tags
Green Green List (high evidence)	FXPOI STR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure 1 MIM#311360 Tags 5'UTR
Green Green List (high evidence)	GALT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Galactosemia, 230400 Tags treatable
Green Green List (high evidence)	GDF9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Premature ovarian failure 14 MIM#618014 Tags
Green Green List (high evidence)	GGPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy deafness ovarian insufficiency Tags
Green Green List (high evidence)	GNAS	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	GNRH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 12 with or without anosmia 614841 Tags
Green Green List (high evidence)	GNRHR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 7 without anosmia 146110 Tags
Green Green List (high evidence)	HARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Perrault syndrome 2 614926 Tags
Green Green List (high evidence)	HFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Premature ovarian failure 9,615724 Tags
Green Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 1 233400 Tags
Green Green List (high evidence)	HSF2BP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Premature ovarian failure, OMIM#619245 Tags
Green Green List (high evidence)	KHDRBS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure Tags
Green Green List (high evidence)	KISS1R	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4 615300 Tags
Green Green List (high evidence)	LHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300 Tags
Green Green List (high evidence)	LHCGR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Luteinizing hormone resistance, female, (MIM#238320) Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320) Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320) Tags
Green Green List (high evidence)	LHX8	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Primary ovarian insufficiency Tags
Green Green List (high evidence)	LMNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	MCM8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Premature ovarian failure 10, MIM# 612885 Tags
Green Green List (high evidence)	MCM9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ovarian dysgenesis 4, MIM#616185 Hereditary neoplastic syndrome MONDO:0015356 Tags
Green Green List (high evidence)	MRPL49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease, MONDO:0044970, MRPL49-related Tags
Green Green List (high evidence)	MRPS22	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health QLD Tags
Green Green List (high evidence)	MSH4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ovarian insufficiency azoospermia Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nijmegen breakage syndrome MIM#251260 Tags
Green Green List (high evidence)	NOBOX	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health QLD Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Premature ovarian failure 5,611548 Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Primary ovarian insufficiency Tags
Green Green List (high evidence)	NR5A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health QLD Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 8,613957 46XY sex reversal 3,612965 Premature ovarian failure 7,612964 Tags
Green Green List (high evidence)	NUP107	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health QLD Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Ovarian dysgenesis 6 MIM#618078 primary amenorrhea hypogonadotrophic hypogonadism Tags
Green Green List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Progressive external ophthalmoplegia, autosomal recessive 1 258450 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Tags
Green Green List (high evidence)	POLR3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694 Tags
Green Green List (high evidence)	POLR3B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571 Tags
Green Green List (high evidence)	PRDM9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inherited primary ovarian failure MONDO:0019852 Tags
Green Green List (high evidence)	PREPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia-cystinuria syndrome premature ovarian failure Tags
Green Green List (high evidence)	PROK2	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	PROKR2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Tags
Green Green List (high evidence)	PSMC3IP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ovarian dysgenesis 3, MIM# 614324 Tags
Green Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840 Tags
Green Green List (high evidence)	SEMA3A	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	SOHLH1	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health QLD NHS GMS Phenotypes Ovarian dysgenesis 5 MIM#617690 Tags
Green Green List (high evidence)	STAG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health QLD NHS GMS Phenotypes Premature ovarian failure 8 MIM#615723 Tags
Green Green List (high evidence)	STAR	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	SYCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health QLD Phenotypes Premature ovarian failure 12, MIM# 616947 Tags
Green Green List (high evidence)	SYCP2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Premature ovarian failure 24, MIM# 620840 Tags
Green Green List (high evidence)	TAC3	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	TACR3	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	TFAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss Tags
Green Green List (high evidence)	TP63	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Premature ovarian failure-21, MIM#620311 Limb-mammary syndrome MIM#603543 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 Tags SV/CNV
Green Green List (high evidence)	TWNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 5, 616138 Tags
Green Green List (high evidence)	WDR11	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Green Green List (high evidence)	WRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Werner syndrome MIM#277700 Tags
Green Green List (high evidence)	WT1	0 reviews	Not set	Sources Expert Review Green Royal Melbourne Hospital Tags
Amber Amber List (moderate evidence)	AMH	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Primary ovarian insuffiency Tags
Amber Amber List (moderate evidence)	AMHR2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	ATG7	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 31 MIM#619422 primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	BMPR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	BMPR1B	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Acromesomelic dysplasia 3 MIM#609441 primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	BUB1B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Premature ovarian failure Tags
Amber Amber List (moderate evidence)	CCDC141	1 review	Unknown	Sources Expert Review Amber Literature Phenotypes Anosmic hypogonadotropic hypogonadism Tags
Amber Amber List (moderate evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 5 with or without anosmia 612370 CHARGE syndrome 214800 Tags
Amber Amber List (moderate evidence)	CPEB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency, MONDO:0005387, CPEB1-related Tags SV/CNV
Amber Amber List (moderate evidence)	DAZL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian failure, MONDO:0005387, DAZL-related Tags
Amber Amber List (moderate evidence)	DMC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency non-obstructive azoospermia Tags
Amber Amber List (moderate evidence)	EIF4ENIF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health QLD Phenotypes Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related Tags
Amber Amber List (moderate evidence)	ERAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Genetic Health QLD Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber Amber List (moderate evidence)	ERCC6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Premature ovarian failure 11 616946 Tags
Amber Amber List (moderate evidence)	ESR2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Ovarian dysgenesis 8 618187 Tags
Amber Amber List (moderate evidence)	FANCA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Fanconi anemia, complementation group A MIM#227650 Tags
Amber Amber List (moderate evidence)	FANCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fanconi anemia, complementation group C MIM#227645 Tags
Amber Amber List (moderate evidence)	FANCI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Tags
Amber Amber List (moderate evidence)	FANCL	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Fanconi anemia, complementation group L MIM#614083 Tags
Amber Amber List (moderate evidence)	FEZF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 22, with or without anosmia 616030 Tags
Amber Amber List (moderate evidence)	FGF17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 20 with or without anosmia 615270 Tags
Amber Amber List (moderate evidence)	GATA4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency congenital heart defect Tags
Amber Amber List (moderate evidence)	HELQ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	IGSF10	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes delayed puberty hypogonadotropic hypogonadism Tags
Amber Amber List (moderate evidence)	INSL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	KISS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Tags
Amber Amber List (moderate evidence)	MEIOB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	MGA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Premature ovarian failure 26, MIM# 621065 Tags
Amber Amber List (moderate evidence)	MRPL50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber Amber List (moderate evidence)	MRPS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 34, MIM# 617872 sensorineural deafness renal failure liver failure primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	MSH5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health QLD Phenotypes Premature ovarian failure 13 MIM#617442 Tags
Amber Amber List (moderate evidence)	NANOS3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health QLD Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	PEX6	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perrault syndrome Tags
Amber Amber List (moderate evidence)	POF1B	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health QLD Phenotypes Premature ovarian failure 2B, MIM# 300604 Tags
Amber Amber List (moderate evidence)	POLR2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	POLR3H	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	REC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	SPATA22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Premature ovarian insufficiency and nonobstructive azoospermia Genetic infertility MONDO:0017143 Tags
Amber Amber List (moderate evidence)	SPIDR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Ovarian dysgenesis 9, MIM# 619665 Tags
Amber Amber List (moderate evidence)	WDR62	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Primary ovarian insufficiency Tags
Amber Amber List (moderate evidence)	ZNF483	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes primary ovarian failure MONDO:0005387 Tags
Red Red List (low evidence)	ANTXR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GAPO syndrome MIM#230740 Tags
Red Red List (low evidence)	ATG9A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian insufficiency Tags
Red Red List (low evidence)	AXL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Kallman syndrome normosmic idiopathic hypogonadotropic hypogonadism Tags
Red Red List (low evidence)	BMP8B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian insufficiency Tags
Red Red List (low evidence)	BMPR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian insufficiency Tags
Red Red List (low evidence)	BTG4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Literature Phenotypes Oocyte maturation defect, MIM#619009 Tags
Red Red List (low evidence)	DACH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Primary ovarian failure, MONDO:0005387, DACH2-related Tags
Red Red List (low evidence)	DIAPH2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Royal Melbourne Hospital Phenotypes ?Premature ovarian failure 2A 300511 Tags SV/CNV
Red Red List (low evidence)	DUSP6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Hypogonadotropic hypogonadism 19 with or without anosmia 615269 Tags
Red Red List (low evidence)	FLRT3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 21 with anosmia 615271 Tags
Red Red List (low evidence)	GJA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Primary ovarian insufficiency Tags
Red Red List (low evidence)	HNF1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Renal cysts and diabetes syndrome 137920 AD Tags
Red Red List (low evidence)	HS6ST1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Tags
Red Red List (low evidence)	IL17RD	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 18 with or without anosmia 615267 Tags
Red Red List (low evidence)	NOG	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Symphalangism, proximal, 1A MIM#185800 Tags
Red Red List (low evidence)	PANX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 7, MIM# 618550 Tags
Red Red List (low evidence)	PATL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 4, MIM# 617743 Tags
Red Red List (low evidence)	PGRMC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Premature ovarian failure Tags
Red Red List (low evidence)	POU5F1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Premature ovarian failure Tags
Red Red List (low evidence)	PRDM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian insufficiency Tags
Red Red List (low evidence)	SGO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Phenotypes Perrault syndrome Tags
Red Red List (low evidence)	SOHLH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Premature ovarian failure Tags
Red Red List (low evidence)	TUBB8	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 2, MIM# 616780 Tags
Red Red List (low evidence)	TUFM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inherited primary ovarian failure MONDO:0019852, TUFM-related Tags
Red Red List (low evidence)	UBR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian failure Tags
Red Red List (low evidence)	WEE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 5, MIM# 617996 Tags
Red Red List (low evidence)	XRCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Premature ovarian failure 17, MIM# 619146 Spermatogenic failure, MIM# 619145 Tags
Red Red List (low evidence)	XRCC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction MIM#616541 Tags
Red Red List (low evidence)	ZP1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 1, MIM# 615774 Tags
Red Red List (low evidence)	ZP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health QLD Literature Phenotypes Oocyte maturation defect 6, MIM# 618353 Female infertility Tags
Red Red List (low evidence)	ZP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health QLD Phenotypes Oocyte maturation defect 3, MIM# 617712 Tags
No list No list	FMR1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Fragile X tremor ataxia syndrome, 300623 Fragile X syndrome, 300624 Premature ovarian failure 1, 311360 Tags STR

Primary Ovarian Insufficiency_Premature Ovarian Failure (Version 0.340)

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