Description
This panel is used for clinical indication 'R148 Hypogonadotropic hypogonadism', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/)  under 'R148 Hypogonadotropic hypogonadism'.

The content of this panel (version 1.4: https://panelapp.genomicsengland.co.uk/api/v1/panels/650/?version=1.4) was signed off under NHS Genomic Medicine Service governance on (04/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

6 reviewers

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Simon Thomas (Wessex Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Simon Thomas (Wessex)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

44 Entities

44 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
ANOS1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 1 (OMIM 308700)
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 5 (OMIM 612370)
Tags
Green Green List (high evidence)
FGF8
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 6 (OMIM 612702)
Tags
Green Green List (high evidence)
FGFR1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 2(OMIM 147950)
Tags
Green Green List (high evidence)
FSHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 24 (OMIM 229070)
Tags
Green Green List (high evidence)
GNRHR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 7 (OMIM 146110)
Tags
Green Green List (high evidence)
IL17RD
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267
Tags
  • Q2_21_expert_review
  • Q2_21_MOI
Green Green List (high evidence)
KISS1R
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 8 (OMIM 614837)
Tags
Green Green List (high evidence)
LHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 23 (OMIM 228300)
Tags
Green Green List (high evidence)
PROK2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 4 (OMIM 610628)
Tags
Green Green List (high evidence)
PROKR2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 3 (OMIM 244200)
Tags
Green Green List (high evidence)
TAC3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 10(OMIM 614839)
Tags
Green Green List (high evidence)
TACR3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 11(OMIM 614840)
Tags
Green Green List (high evidence)
WDR11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 14 (OMIM 614858)
Tags
Amber Amber List (moderate evidence)
CCDC141
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anosmic hypogonadotropic hypogonadism
  • congenital hypogonadotropic hypogonadism, MONDO:0015770
Tags
  • Q2_21_expert_review
Amber Amber List (moderate evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Perrault syndrome 3, OMIM:614129
Tags
  • watchlist
Amber Amber List (moderate evidence)
CPE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Tags
  • Q3_21_rating
Amber Amber List (moderate evidence)
DCAF17
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Woodhouse-Sakati syndrome (OMIM 241080)
Tags
Amber Amber List (moderate evidence)
DUSP6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269
Tags
  • Q2_21_expert_review
Amber Amber List (moderate evidence)
FEZF1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Tags
Amber Amber List (moderate evidence)
FGF17
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
Tags
  • Q2_21_expert_review
Amber Amber List (moderate evidence)
GNRH1
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
IGSF10
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • delayed puberty
  • hypogonadotropic hypogonadism
  • primary ovary insufficiency
Tags
  • watchlist
Amber Amber List (moderate evidence)
KLB
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital hypogonadotropic hypogonadism
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
LEP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Obesity, morbid, due to leptin deficiency, OMIM:614962
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
LEPR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
NDNF
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital hypogonadotropic hypogonadism (CHH)
  • Hypogonadotropic hypogonadism 25 with anosmia, 618841
Tags
  • for-review
Amber Amber List (moderate evidence)
SLC29A3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
  • H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism
Tags
Amber Amber List (moderate evidence)
SOX10
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Waardenburg syndrome type 4C, OMIM:611584
  • Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584
  • congenital hypogonadotropic hypogonadism, MONDO:0015770
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
SOX2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Syndromic Microphthalmia type 3 (OMIM 206900)
Tags
Amber Amber List (moderate evidence)
TCF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniosynostosis 3, 615314
  • Kallman syndrome, MONDO:0018800
Tags
  • Q2_21_rating
Red Red List (low evidence)
CUL4B
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Syndromic X-linked mental retardation (OMIM 300354)
Tags
Red Red List (low evidence)
GLI2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Culler-Jones syndrome (OMIM 615849)
Tags
Red Red List (low evidence)
HAMP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Haemochromatosis type 2B (OMIM 613313)
Tags
Red Red List (low evidence)
HFE
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Haemochromatosis type 1 (OMIM 235200)
Tags
Red Red List (low evidence)
LHX4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Combined Pituitary Hormone deficiency (OMIM 262700)
Tags
Red Red List (low evidence)
NR0B1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • 46XY sex reversal type 2 (OMIM 300018)
Tags
Red Red List (low evidence)
NSMF
4 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Tags
Red Red List (low evidence)
PROP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Combined Pituitary Hormone deficiency (OMIM 262600)
Tags
Red Red List (low evidence)
SLC40A1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Haemochromatosis type 4 (OMIM 606069)
Tags
Red Red List (low evidence)
SOX3
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Panhypopituitarism, X-linked, OMIM:312000
  • Panhypopituitarism, X-linked, MONDO:0010712
Tags
Red Red List (low evidence)
TFR2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Haemochromatosis type 3 (OMIM 604250)
Tags
No list No list
PLXNA3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism
Tags
No list No list
SEMA3F
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism
Tags

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