PanelApp
  1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
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.

It has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). 

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

17 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)

  • Rylee Peters (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Anna Ritchie (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

164 Entities

164 reviewed, 89 green

List Entity Reviews Mode of inheritance Details
164 Entitiess
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)
DMC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387, Azoospermia, MONDO:0100459, DMC1-related
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)
EIF4ENIF1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health QLD
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related
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)
EXO1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387, EXO1-related
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)
FMR1_FXPOI_CGG
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)
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)
FOXL2_BPES_GCN
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996
Tags
Green Green List (high evidence)
FSHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070
Tags
Green Green List (high evidence)
FSHR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Ovarian dysgenesis 1 MONDO:0024463
Tags
Green Green List (high evidence)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Primary ovarian failure, MONDO:0005387
  • Galactosemia MIM#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
1 review
1 green 		Other
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pseudohypoparathyroidism Ia (103580) AD
  • Pseudohypoparathyroidism Ib (603233) AD
  • Pseudohypoparathyroidism Ic (612462) AD
  • Pseudopseudohypoparathyroidism (612463)
  • Osseous heteroplasia, progressive (166350) AD
  • Pituitary adenoma 3, multiple types, somatic (617686)
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Perrault syndrome 1, #MIM 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837
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)
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
  • Combined oxidative phosphorylation deficiency 60, MIM# 621195
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)
NCOA7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited premature ovarian failure MONDO:0019852, NCOA7-related
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Primary ovarian failure, MONDO:0005387
  • 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
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
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)
RECQL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Rothmund-Thomson syndrome, MONDO:0010002
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897
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)
SPDYC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Lipoid adrenal hyperplasia, MIM# 201710
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839
Tags
Green Green List (high evidence)
TACR3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858
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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Primary ovarian failure, MONDO:0005387
Tags
Green Green List (high evidence)
YTHDC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Primary ovarian failure, MONDO:0005387
Tags
Green Green List (high evidence)
ZSWIM7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387
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)
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)
HELB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure, MONDO:0019852, HELB-related
Tags
Amber Amber List (moderate evidence)
HELQ
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, HELQ-related
Tags
Amber Amber List (moderate evidence)
IGSF10
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Disorder of sex differentiation, MONDO:0002145, IGSF10-related
  • 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)
LMNA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Laminopathy (MONDO#0021106), LMNA-related
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
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, POLR2C-related
Tags
Amber Amber List (moderate evidence)
POLR3H
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency MONDO:0005387, POLR3H-related
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
  • Primary ovarian insufficiency MONDO:0005387, POU5F1-related
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)
RCBTB1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies MIM#617175
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
  • Inherited premature ovarian failure MONDO:0019852, SOHLH2-related
Tags
Red Red List (low evidence)
SWSAP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, SWSAP1-related
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

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