PanelApp
  1. Panels
  2. Infertility and Recurrent Pregnancy Loss
Description
Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).

For male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.

Sources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).

Please also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.

We would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.
Panel Activity

3 reviewers

  • Bryony Thompson (Royal Melbourne Hospital)

  • Jasmine Chew (Other)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

182 Entities

182 reviewed, 148 green

List Entity Reviews Mode of inheritance Details
182 Entitiess
Green Green List (high evidence)
AARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure, MIM# 615889
Tags
Green Green List (high evidence)
ACTL7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 86, #MIM 620499
Tags
Green Green List (high evidence)
ACTL9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 53, MIM# 619258
Tags
Green Green List (high evidence)
AIRE
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Tags
Green Green List (high evidence)
AMH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Persistent Mullerian duct syndrome, type I, MIM# 261550
Tags
Green Green List (high evidence)
AMHR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Persistent Mullerian duct syndrome, type I, MIM #261550
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, ANKRD31-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
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Tags
Green Green List (high evidence)
ASTL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 11, MIM# 619643
Tags
Green Green List (high evidence)
AURKC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 5, MIM #243060
Tags
Green Green List (high evidence)
BCORL1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, MONDO:0004983, BCORL1-related
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
  • Literature
Phenotypes
  • Ovarian dysgenesis 2, MIM# 300510
  • Premature ovarian failure 4, MIM# 300510
Tags
Green Green List (high evidence)
BNC1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 16, MIM# 618723
Tags
Green Green List (high evidence)
BTG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 8, MIM# 619009
Tags
Green Green List (high evidence)
C14orf39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 18, MIM# 619203
  • Spermatogenic failure 52, MIM# 619202
Tags
Green Green List (high evidence)
C17orf53
1 review
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)
CATSPER1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 7, MIM# 612997
Tags
  • SV/CNV
Green Green List (high evidence)
CCDC155
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 22, MIM# 620548
  • Spermatogenic failure 88, MIM# 620547
Tags
  • new gene name
Green Green List (high evidence)
CCNB3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CCNB3-related
Tags
Green Green List (high evidence)
CDC20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 14, MIM# 620276
Tags
Green Green List (high evidence)
CDC25A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, MONDO:0004983, CDC25A-related
Tags
Green Green List (high evidence)
CFAP221
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 55, MIM# 279000
Tags
Green Green List (high evidence)
CFTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital bilateral absence of vas deferens, MIM# 277180
Tags
Green Green List (high evidence)
CHEK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 21, MIM# 620610
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
  • Primary ovarian insufficiency
Tags
Green Green List (high evidence)
CLPP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 3, MIM# 614129
Tags
Green Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP19A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aromatase deficiency, MIM# 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
  • Hypergonadotropic/ Hypogonadotropic Hypogonadism
Tags
Green Green List (high evidence)
DDX3Y
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Azoospermia, MONDO:0100459, DDX3Y-related
Tags
Green Green List (high evidence)
DHH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 46XY gonadal dysgenesis with minifascicular neuropathy, MIM# 607080
Tags
Green Green List (high evidence)
DNAAF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ciliary dyskinesia 13, #MIM 613193
Tags
Green Green List (high evidence)
DNAAF4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ciliary dyskinesia 25, MIM# 615482
Tags
Green Green List (high evidence)
DNAH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 18 , MIM# 617576
Tags
Green Green List (high evidence)
DNAH10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 56, MIM# 619515
Tags
Green Green List (high evidence)
DNAH11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884
Tags
Green Green List (high evidence)
DNAH12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 100, MIM# 621209
Tags
Green Green List (high evidence)
DNAH8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 46, MIM# 619095
Tags
Green Green List (high evidence)
DNHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 65, MIM# 619712
Tags
Green Green List (high evidence)
DPY19L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 9, MIM# 613958
Tags
Green Green List (high evidence)
EIF2B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, MIM# 603896
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarioleukodystrophy, MIM# 620314
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarioleukodystrophy, MIM# 620315
Tags
Green Green List (high evidence)
EIF4ENIF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related
Tags
Green Green List (high evidence)
ELL3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related
Tags
Green Green List (high evidence)
ERCC6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 11, MIM# 616946
Tags
Green Green List (high evidence)
ESR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Estrogen resistance, MIM# 615363
Tags
Green Green List (high evidence)
EXO1
2 reviews
2 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 15, MIM# 618096
  • Spermatogenic failure 28, MIM# 618086
Tags
Green Green List (high evidence)
FBXO43
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 12, MIM# 619697
  • Spermatogenic failure 64, MIM# 619696
Tags
Green Green List (high evidence)
FGF8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia , MIM#147950
Tags
Green Green List (high evidence)
FIGLA
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 6, MIM# 612310
Tags
Green Green List (high evidence)
FKBP6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 77, MIM# 620103
Tags
Green Green List (high evidence)
FOXD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent pregnancy loss and repeated implantation failure susceptibility, MONDO:0000144, FOXD1-related
Tags
Green Green List (high evidence)
FOXL2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 3, #MIM 608996
Tags
Green Green List (high evidence)
FOXP3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • X-linked immunodysregulation, polyendocrinopathy, and enteropathy, MIM# 304790
Tags
Green Green List (high evidence)
FSHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM# 229070
Tags
Green Green List (high evidence)
FSHR
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarian dysgenesis 1, MIM# 233300
  • Ovarian hyperstimulation syndrome, MIM# 608115
Tags
Green Green List (high evidence)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galactosaemia, MIM# 230400
  • Premature ovarian failure
Tags
Green Green List (high evidence)
GDF9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 14, MIM# 618014
Tags
Green Green List (high evidence)
GGN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 69, MIM# 619826
Tags
Green Green List (high evidence)
GGPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MMIM# 619518
Tags
Green Green List (high evidence)
GNRH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Tags
Green Green List (high evidence)
GNRHR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110
Tags
Green Green List (high evidence)
H6PD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortisone reductase deficiency 1, MIM# 604931
Tags
Green Green List (high evidence)
HARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 2, MIM# 614926
Tags
Green Green List (high evidence)
HFM1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 9, MIM# 615724
Tags
Green Green List (high evidence)
HSD17B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 1, #MIM 233400
Tags
Green Green List (high evidence)
HSF2BP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 19, OMIM#619245
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Incontinentia pigmenti, MIM# 308300
Tags
  • technically challenging
Green Green List (high evidence)
KCNU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 79, #MIM 620196
Tags
Green Green List (high evidence)
KHDC3L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent hydatidiform mole 2, MIM# 614293
Tags
Green Green List (high evidence)
KIAA1683
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 78, #MIM 620170
Tags
Green Green List (high evidence)
KISS1R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Literature
Phenotypes
  • Perrault syndrome 4, MIM# 615300
Tags
Green Green List (high evidence)
LHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Literature
Phenotypes
  • Luteinizing hormone resistance, female/ Leydig cell hypoplasia with pseudohermaphroditism/ Leydig cell hypoplasia with hypergonadotropic hypogonadism, MIM# 238320
Tags
Green Green List (high evidence)
LHX8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited premature ovarian failure, MONDO:0019852, LHX8-related
Tags
Green Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Laminopathy
  • Female infertility, premature ovarian insufficiency
Tags
Green Green List (high evidence)
MCM8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 10, MIM# 612885
  • Azoospermia, MONDO:0100459
Tags
Green Green List (high evidence)
MCM9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarian dysgenesis 4, MIM# 616185
Tags
Green Green List (high evidence)
MEI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent hydatidiform mole 3, MIM# 618431
  • Non-obstructive azoospermia
Tags
Green Green List (high evidence)
MEIOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 23, MIM# 620686
  • Spermatogenic failure 22, MIM# 617706
Tags
Green Green List (high evidence)
MOS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 20, MIM# 620383
Tags
Green Green List (high evidence)
MSH4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 20, MIM# 619938
  • Spermatogenic failure 2, MIM# 108420
Tags
Green Green List (high evidence)
MSH5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 13, MIM #617442
  • Spermatogenic failure 74, MIM# 619937
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)
NLRP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 18, MIM# 620332
Tags
Green Green List (high evidence)
NLRP5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 19, MIM# 620333
Tags
Green Green List (high evidence)
NLRP7
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Recurrent hydatidiform mole 1, # MIM 231090
Tags
Green Green List (high evidence)
NOBOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 5, MIM# 611548
Tags
Green Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited primary ovarian failure, MONDO:0019852, NOTCH2-related
Tags
Green Green List (high evidence)
NR0B1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital adrenal hypoplasia, #MIM 300200
Tags
Green Green List (high evidence)
NR5A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 7, MIM #612964
  • Spermatogenic failure 8, # 613957
Tags
Green Green List (high evidence)
NUP107
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarian dysgenesis 6, MIM# 618078
Tags
Green Green List (high evidence)
PABPC1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 22, #MIM 621093
Tags
Green Green List (high evidence)
PADI6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 16, #MIM 617234
Tags
Green Green List (high evidence)
PANX1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 7, MIM# 618550
Tags
Green Green List (high evidence)
PATL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte maturation defect 4, MIM# 617743
Tags
Green Green List (high evidence)
PLCZ1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 17, MIM# 617214
Tags
Green Green List (high evidence)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia, MIM #212065
  • Primary ovarian failure
Tags
Green Green List (high evidence)
PNPLA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Boucher-Neuhauser syndrome, MIM# 215470
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • POLG-related disorders
  • Premature ovarian failure
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694
Tags
Green Green List (high evidence)
POLR3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Literature
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
  • Primary ovarian insufficiency, MONDO:0005387
Tags
Green Green List (high evidence)
PREPL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 22, MIM# 616224
  • Hypergonadotropic hypogonadism
Tags
Green Green List (high evidence)
PROK2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
Tags
Green Green List (high evidence)
PSMC3IP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarian dysgenesis 3, MIM# 614324
Tags
Green Green List (high evidence)
REC114
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 10, #MIM 619176
Tags
Green Green List (high evidence)
RNF216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Tags
Green Green List (high evidence)
RXFP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, MONDO:0004983, RXFP2-related
Tags
Green Green List (high evidence)
SEMA3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897
Tags
Green Green List (high evidence)
SEPT12
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 10, MIM#614822
Tags
Green Green List (high evidence)
SEPT4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 99, MIM# 621194
Tags
Green Green List (high evidence)
SLC26A8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 3, MIM# 606766
Tags
Green Green List (high evidence)
SOHLH1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ovarian dysgenesis 5, MIM #617690
  • Spermatogenic failure 32, MIM #618115
Tags
Green Green List (high evidence)
SPAG6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, MONDO:0004983, SPAG6-related
Tags
Green Green List (high evidence)
SPEF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 43, MIM# 618751
Tags
Green Green List (high evidence)
STAG3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 8, MIM# 615723
  • Spermatogenic failure 61, MIM# 619672
Tags
Green Green List (high evidence)
STAR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
  • Literature
Phenotypes
  • Premature ovarian failure 12, MIM# 616947, Spermatogenic failure 15 ,MIM# 616950
Tags
Green Green List (high evidence)
SYCP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 1, MIM# 258150
  • Hydatidiform mole
Tags
Green Green List (high evidence)
SYCP2L
1 review
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 Review Green
  • Literature
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 Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Tags
Green Green List (high evidence)
TBPL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited oocyte maturation defect, MONDO:0014769, TBPL2-related
Tags
Green Green List (high evidence)
TEX11
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, X-linked 2, MIM# 309120
Tags
Green Green List (high evidence)
TEX14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure MONDO:0004983, TEX14-related
Tags
Green Green List (high evidence)
TLE6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 15, #MIM 616814
Tags
Green Green List (high evidence)
TP63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 21, MIM# 620311
Tags
Green Green List (high evidence)
TRIP13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 9, #MIM 619011
  • Mosaic variegated aneuploidy syndrome 3, #MIM 617598
Tags
Green Green List (high evidence)
TUBA1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 24, MIM# 621232
Tags
Green Green List (high evidence)
TUBA4A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 23, MIM# 621231
Tags
Green Green List (high evidence)
TUBB8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 2, MIM# 616780
Tags
Green Green List (high evidence)
TWNK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 5, MIM# 616138
Tags
Green Green List (high evidence)
UBE2B
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Male infertility, MONDO:0005372
Tags
Green Green List (high evidence)
WDR11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858
Tags
Green Green List (high evidence)
WEE2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 5, MIM# 617996
Tags
Green Green List (high evidence)
WT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387, WT1-related
Tags
Green Green List (high evidence)
ZFP36L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 13, MIM# 620154
Tags
Green Green List (high evidence)
ZP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 1, MIM# 615774
Tags
Green Green List (high evidence)
ZP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 6, MIM# 618353
Tags
Green Green List (high evidence)
ZP3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 3, MIM# 617712
Tags
Amber Amber List (moderate evidence)
ATG4D
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 101, MIM# 621269
Tags
Amber Amber List (moderate evidence)
BRCA2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure
Tags
Amber Amber List (moderate evidence)
C11orf80
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent hydatidiform mole 4, MIM # 618432
Tags
  • new gene name
Amber Amber List (moderate evidence)
C4BPA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • recurrent pregnancy loss susceptibility MONDO:0000144, C4BPA-related
Tags
Amber Amber List (moderate evidence)
CAPS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent pregnancy loss, susceptibility to, MONDO:0000144, CAPS-related
Tags
Amber Amber List (moderate evidence)
CPEB1
2 reviews
1 green 		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)
DMRT1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Azoospermia, MONDO:0100459, DMRT1-related
Tags
Amber Amber List (moderate evidence)
FGA
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent pregnancy loss
Tags
Amber Amber List (moderate evidence)
FKBP4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent pregnancy loss susceptibility, MONDO:0000144, FKBP4-related
Tags
Amber Amber List (moderate evidence)
FRAS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fraser syndrome 1, MIM# 219000
Tags
Amber Amber List (moderate evidence)
GBE1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
Tags
Amber Amber List (moderate evidence)
KPNA7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oocyte/zygote/embryo maturation arrest 17, #MIM 620319
Tags
Amber Amber List (moderate evidence)
MAJIN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent hydatidiform mole, non-obstructive azoospermia
Tags
Amber Amber List (moderate evidence)
MRPS22
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ovarian dysgenesis 7, MIM# 618117
Tags
Amber Amber List (moderate evidence)
MTHFR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Homocystinuria due to MTHFR deficiency MIM#236250
  • Recurrent pregnancy loss susceptibility
Tags
Amber Amber List (moderate evidence)
MUSK
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 1, MIM# 208150
Tags
Amber Amber List (moderate evidence)
NLRP14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest
Tags
Amber Amber List (moderate evidence)
OOEP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent preimplantation embryonic arrest
  • Female infertility due to oocyte meiotic arrest, MONDO:0044626
Tags
Amber Amber List (moderate evidence)
POF1B
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure 2B, MIM# 300604
Tags
Amber Amber List (moderate evidence)
RNF212B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Infertility disorder, MONDO:0005047, RNF212B-related
  • Female and male infertility with recurrent medically assisted reproduction (MAR) failures.
Tags
Amber Amber List (moderate evidence)
SYCP3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 4, Recurrent pregnancy loss 4, MIM# 270960
Tags
Amber Amber List (moderate evidence)
TACC3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Female infertility due to oocyte meiotic arrest, MONDO:0044626
Tags
Amber Amber List (moderate evidence)
TIMP2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent pregnancy loss susceptibility, MONDO:0000144, TIMP2-related
Tags
Amber Amber List (moderate evidence)
USP26
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure, X-linked 6, MIM# 301101
Tags
Amber Amber List (moderate evidence)
WNT6
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • recurrent pregnancy loss susceptibility, MONDO:0000144
Tags
Red Red List (low evidence)
CHRNA1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM# 253290
Tags
Red Red List (low evidence)
KIF14
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meckel syndrome 12, MIM# 616258
Tags
Red Red List (low evidence)
PDCD2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Non-immune hydrops fetalis, MONDO:0009369
  • Recurrent pregnancy loss susceptibility, MONDO:0000144
Tags
Red Red List (low evidence)
PDHA2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 70, MIM# 619828
Tags
Red Red List (low evidence)
PIEZO1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lymphatic malformation 6, MIM# 616843
Tags
Red Red List (low evidence)
SCN5A
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
STIL
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary microcephaly 7, autosomal recessive, MIM# 612703
Tags
Red Red List (low evidence)
TTN
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome, MONDO:0017436
Tags
Red Red List (low evidence)
ZNF597
1 review
1 red 		Other
Sources
  • Expert Review Red
  • Literature
  • Research
Tags

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