PanelApp
  1. Panels
  2. Hypogonadotropic hypogonadism
Description
This panel contains genes associated with hypogonadotropic hypogonadism.

It includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. 

For multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.
Panel Activity

18 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Lauren Akesson (Royal Melbourne Hospital)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Krithika Murali (Pathology Queensland)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Rylee Peters (Victorian Clinical Genetics Services)

  • Hali Van Niel (University of Melbourne)

94 Entities

94 reviewed, 60 green

List Entity Reviews Mode of inheritance Details
94 Entitiess
Green Green List (high evidence)
ANOS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Tags
Green Green List (high evidence)
ARHGAP35
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
Tags
Green Green List (high evidence)
BMP4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia, syndromic 6, MIM#607932
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
  • CHARGE syndrome (214800)
Tags
Green Green List (high evidence)
CPE
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • BDV syndrome MONDO:0859150
Tags
Green Green List (high evidence)
CUL4B
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Tags
Green Green List (high evidence)
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Woodhouse-Sakati syndrome, MIM# 241080
Tags
Green Green List (high evidence)
DLG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • delayed puberty, self-limited, MONDO:0859205
Tags
  • SV/CNV
Green Green List (high evidence)
EIF2S3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • MEHMO syndrome, MIM# 300148
Tags
Green Green List (high evidence)
EMX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly, MIM# 269160Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related
  • 46,XX or XY DSD, EMX2-related
Tags
  • disputed
Green Green List (high evidence)
FGF17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGF8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Tags
Green Green List (high evidence)
FGFR1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Tags
Green Green List (high evidence)
FOXA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypopituitarism, MONDO:0005152
  • Hyperinsulinism, MONDO:0002177
Tags
Green Green List (high evidence)
FSHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Tags
Green Green List (high evidence)
GLI2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Culler-Jones syndrome (615849)
  • Holoprosencephaly 9 (610829)
Tags
Green Green List (high evidence)
GLI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Greig cephalopolysyndactyly syndrome (175700)
  • Pallister-Hall syndrome (146510)
Tags
Green Green List (high evidence)
GNAI2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, GNAI2-related
Tags
Green Green List (high evidence)
GNRH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia (146110)
Tags
Green Green List (high evidence)
HESX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency with pituitary anomalies (182230)
  • Pituitary hormone deficiency, combined, 5 (182230)
Tags
Green Green List (high evidence)
HID1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Tags
Green Green List (high evidence)
Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions
ISCA-37478-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Angelman syndrome, MIM# 105830
  • Prader-Willi syndrome, MIM# 176270
Tags
  • SV/CNV
Green Green List (high evidence)
KISS1R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Tags
Green Green List (high evidence)
KLB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Tags
Green Green List (high evidence)
LEPR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity due to leptin receptor gene deficiency, MONDO:0013992
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
LHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)
Tags
Green Green List (high evidence)
LHX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 3 (221750)
Tags
  • treatable
Green Green List (high evidence)
LHX4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 4 (262700)
Tags
  • treatable
Green Green List (high evidence)
MT-TS2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TS2-related
Tags
  • mtDNA
Green Green List (high evidence)
NEUROG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital malabsorptive diarrhea 4, MONDO:0012479
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
Green Green List (high evidence)
NOS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
Green Green List (high evidence)
NR0B1
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hypoplasia, congenital (MIM# 300200)
  • 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Tags
  • SV/CNV
Green Green List (high evidence)
OTX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 6 (613986)
  • Microphthalmia, syndromic 5 (610125)
Tags
Green Green List (high evidence)
PCSK1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Obesity with impaired prohormone processing MIM#600955
Tags
Green Green List (high evidence)
PLXNA3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism
Tags
Green Green List (high evidence)
PNPLA6
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Oliver-McFarlane syndrome (275400)
  • Spastic paraplegia 39, autosomal recessive (612020)
  • Boucher-Neuhauser syndrome (215470)
Tags
Green Green List (high evidence)
POLR3A
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (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
  • OMIM #614381
Tags
Green Green List (high evidence)
PROK2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628)
Tags
Green Green List (high evidence)
PROKR2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Tags
Green Green List (high evidence)
PROP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pituitary hormone deficiency, combined, 2 MIM# 262600
Tags
Green Green List (high evidence)
RNF216
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia-hypogonadism syndrome, MONDO:0008935
Tags
Green Green List (high evidence)
ROBO1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
Tags
Green Green List (high evidence)
SEMA3A
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Tags
Green Green List (high evidence)
SEMA3F
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism
Tags
Green Green List (high evidence)
SLC29A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Tags
Green Green List (high evidence)
SMCHD1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bosma arhinia microphthalmia syndrome, MIM# 603457
  • Arhinia, choanal atresia, microphthalmia MONDO:0011323
Tags
Green Green List (high evidence)
SOX10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Kallman syndrome
  • PCWH syndrome (MIM#609136)
  • Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584)
  • Waardenburg syndrome, type 4C (MIM#613266)
Tags
Green Green List (high evidence)
SOX11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866
Tags
Green Green List (high evidence)
SOX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Tags
Green Green List (high evidence)
SOX3
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Panhypopituitarism, X-linked (312000)
  • Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Tags
  • SV/CNV
Green Green List (high evidence)
TAC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
TBC1D32
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic hypopituitarism
Tags
Green Green List (high evidence)
TBX3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ulnar-mammary syndrome, MIM# 181450
  • MONDO:0008411
Tags
Green Green List (high evidence)
TCF12
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718
  • Kallmann syndrome
Tags
Green Green List (high evidence)
TUBB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • TUBB3-related tubulinopathy, MONDO:0100154
Tags
Green Green List (high evidence)
WDR11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Tags
Green Green List (high evidence)
ZRSR2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132
Tags
Amber Amber List (moderate evidence)
AMH
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
Amber Amber List (moderate evidence)
ARNT2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Webb-Dattani syndrome 615926
Tags
Amber Amber List (moderate evidence)
CCDC141
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related
Tags
Amber Amber List (moderate evidence)
CLPP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Perrault syndrome 3, MIM# 614129
Tags
Amber Amber List (moderate evidence)
ESRP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cleft palate, MONDO:0016064
  • Hypopituitarism MONDO:0005152
Tags
Amber Amber List (moderate evidence)
FEZF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Tags
Amber Amber List (moderate evidence)
KISS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Tags
Amber Amber List (moderate evidence)
NDNF
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 25 with anosmia MIM#618841
Tags
Amber Amber List (moderate evidence)
NLGN3
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425
  • Hypogonadotropic hypogonadism MONDO:0018555
Tags
Amber Amber List (moderate evidence)
PLXNA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related
Tags
Amber Amber List (moderate evidence)
PLXNB1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism MONDO:0018555
Tags
Amber Amber List (moderate evidence)
POU6F2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
Amber Amber List (moderate evidence)
PRDM13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Tags
  • founder
Amber Amber List (moderate evidence)
RAX
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microphthalmia, syndromic 16, MIM#611038
Tags
Amber Amber List (moderate evidence)
RBM28
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • ANE syndrome
  • Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Tags
Amber Amber List (moderate evidence)
SPRY4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Tags
  • disputed
Red Red List (low evidence)
ARHGAP5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kallmann syndrome MONDO:0018800
Tags
Red Red List (low evidence)
AXL
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related
Tags
Red Red List (low evidence)
DUSP6
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Tags
Red Red List (low evidence)
FLRT3
2 reviews
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Tags
Red Red List (low evidence)
HAMP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, type 2B, MIM# 613313
Tags
Red Red List (low evidence)
HFE
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, MIM# 235200
Tags
Red Red List (low evidence)
HFE2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name
Red Red List (low evidence)
HS6ST1
1 review
1 red 		Other
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Tags
Red Red List (low evidence)
IL17RD
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Tags
  • disputed
Red Red List (low evidence)
NHLH2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Tags
Red Red List (low evidence)
NKX2-1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Tags
Red Red List (low evidence)
NRP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism MONDO:0018555
Tags
Red Red List (low evidence)
NRP2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0018555
Tags
Red Red List (low evidence)
NSMF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Tags
Red Red List (low evidence)
SEMA3E
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • ?CHARGE syndrome (MIM#214800)
Tags
Red Red List (low evidence)
SLC40A1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, type 4, MIM# 606069
Tags
Red Red List (low evidence)
TFR2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, type 3 (MIM#604250)
Tags
Red Red List (low evidence)
TTC26
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191
Tags

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