Hypogonadotropic hypogonadism (GMS) (Version 3.18)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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.

Panel Activity

14 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Mehul Dattani (UCL Institute of Child Health)

Group: GeCIP domain
Workplace: Research lab
Louise IZATT (GSTT Clinical Genetics Service)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Richard Quinton (Newcastle University)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
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
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

47 Entities

47 reviewed, 22 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 47 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)	GNRH1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Wessex and West Midlands GLH Phenotypes ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 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	5 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
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 8 with or without anosmia, OMIM:614837 Tags
Green Green List (high evidence)	KLB	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Congenital hypogonadotropic hypogonadism Tags gene-checked
Green Green List (high evidence)	LEP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Obesity, morbid, due to leptin deficiency, OMIM:614962 Tags
Green Green List (high evidence)	LEPR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 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)	NDNF	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypogonadotropic hypogonadism 25 with anosmia, OMIM:618841 Tags
Green Green List (high evidence)	PLXNA3	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature NHS GMS Phenotypes Hypogonadotropic hypogonadism, MONDO:0018555 Tags gene-checked
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)	SEMA3F	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Hypogonadotropic hypogonadism, MONDO:0018555 Tags gene-checked
Green Green List (high evidence)	SOX10	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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
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)	ARHGAP35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hypogonadotropic hypogonadism, MONDO:0018555 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	CCDC141	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Anosmic hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism, MONDO:0015770 Tags
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	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 Tags
Amber Amber List (moderate evidence)	CUL4B	4 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS South West GLH Wessex and West Midlands GLH Phenotypes Syndromic X-linked mental retardation (OMIM 300354) Tags Q4_23_promote_green
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	4 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
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	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270 Tags
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)	PROP1	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Wessex and West Midlands GLH Phenotypes Pituitary hormone deficiency, combined, 2, OMIM:262600 Tags Q4_23_promote_green
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)	SOX11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Tags Q3_23_promote_green
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)	SPRY4	8 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 Tags monogenic-polygenic
Amber Amber List (moderate evidence)	TCF12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Craniosynostosis 3, 615314 Kallman syndrome, MONDO:0018800 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	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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)	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

Major version comments

2023-03-22 15:25 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:27 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-07-31 14:03 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.27) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Hypogonadotropic hypogonadism (GMS) (Version 3.18)

14 reviewers

47 Entities

47 reviewed, 22 green

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags