| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism (GMS) v3.18 | NDNF | Arina Puzriakova Classified gene: NDNF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | NDNF | Arina Puzriakova Added comment: Comment on list classification: Gene was re-reviewed in light of an Amber review by Zornitza Stark (Australian Genomics) on a Green gene. At least five unrelated cases have been reported, as well as mouse and zebrafish studies showing Ndnf deficiency leads to anomalies in GnRH neuron migration. Pedigree analysis does indicate variable expressivity and incomplete penetrance, although this is relatively common in dominant forms of HH. Furthermore, inclusion of NDNF on this panel has already been reviewed and approved by the NHS specialist group and therefore the Green rating is being maintained. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | NDNF | Arina Puzriakova Gene: ndnf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.17 | NDNF | Arina Puzriakova Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH); Hypogonadotropic hypogonadism 25 with anosmia, 618841 to Hypogonadotropic hypogonadism 25 with anosmia, OMIM:618841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.16 | NDNF | Arina Puzriakova Publications for gene: NDNF were set to 31883645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.15 | NDNF | Arina Puzriakova commented on gene: NDNF: PMID: 36245975 (2022) - another male patient with idiopathic hypogonadotropin hypogonadism identified harbouring a paternally inherited NDNF variant (c.1439T>A, p.Ile480Asn) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.15 | KISS1R | Arina Puzriakova Phenotypes for gene: KISS1R were changed from Hypogonadotropic hypogonadism type 8 (OMIM 614837) to Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.14 | NSMF | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this is only partially explains the phenotype due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.14 | NSMF | Arina Puzriakova Mode of inheritance for gene: NSMF was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.13 | PROP1 | Achchuthan Shanmugasundram Phenotypes for gene: PROP1 were changed from Combined Pituitary Hormone deficiency (OMIM 262600) to Pituitary hormone deficiency, combined, 2, OMIM:262600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.12 | PROP1 | Achchuthan Shanmugasundram Publications for gene: PROP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.11 | PROP1 | Achchuthan Shanmugasundram Classified gene: PROP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.11 | PROP1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.11 | PROP1 | Achchuthan Shanmugasundram Gene: prop1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.10 | PROP1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PROP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.10 | PROP1 | Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11549703, 15941866; Phenotypes: Pituitary hormone deficiency, combined, 2, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Classified gene: CUL4B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Gene: cul4b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CUL4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Achchuthan Shanmugasundram reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385192; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, OMIM:300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | PROP1 | Zornitza Stark reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941866, 11549703; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | NDNF | Zornitza Stark reviewed gene: NDNF: Rating: AMBER; Mode of pathogenicity: None; Publications: 31883645; Phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385192; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Classified gene: ARHGAP35 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.9 | ARHGAP35 | Achchuthan Shanmugasundram Gene: arhgap35 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.8 | ARHGAP35 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35. |
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| Hypogonadotropic hypogonadism (GMS) v3.8 | ARHGAP35 |
Achchuthan Shanmugasundram gene: ARHGAP35 was added gene: ARHGAP35 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to 36178483 Phenotypes for gene: ARHGAP35 were set to hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: ARHGAP35 was set to GREEN Added comment: 16 patients from 13 different families were reported with idiopathic hypogonadotropic hypogonadism (9 with IHH and 7 with Kallmann syndrome (IHH + anosmia)) and with monoallelic ARHGAP35 variants. Rare protein-truncating variants and missense variants were found in the RhoGAP domain of ARHGAP35 gene. Zebrafish modeling using gnrh3:egfp phenotype assessment showed that mutant larvae with deficient arhgap35a (predominant ARHGAP35 paralog in zebrafish brain), displayed decreased GnRH3-GFP+ neuronal area, a readout for IHH. In vitro GAP activity studies showed that 1 rare missense variant (Arg1284Trp) had decreased GAP activity. This gene has not yet been associated with this phenotype either in OMIM or in Gene2Phenotype. However, this gene has been associated with ARHGAP35-related developmental disorder in DD panel of G2P (with 'definitive' rating). Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Classified gene: SOX11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) to promote this gene to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.4 | SOX11 | Achchuthan Shanmugasundram Gene: sox11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.3 | SOX11 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SOX11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.3 | SOX11 |
Achchuthan Shanmugasundram gene: SOX11 was added gene: SOX11 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 35341651 Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Review for gene: SOX11 was set to GREEN Added comment: PMID:35341651 reported 38 unrelated patients with SOX11 variants and idiopathic hypogonadotropic hypogonadism was confirmed as a feature of the intellectual developmental disorder phenotype in eight of these patients. In addition, 3 of 15 cases that were previously reported and reviewed in this publication also had hypogonadotropic hypogonadism. This gene has been associated with neurodevelopmental disorder phenotypes in both OMIM (MIM #615866) and Gene2Phenotype (with 'definitive' rating in the DD panel) and hypogonadotropic hypogonadism was reported as one of the clinical manifestations in OMIM. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v3.2 | PROKR2 | Achchuthan Shanmugasundram Publications for gene: PROKR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.0 | Catherine Snow promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.6 |
Catherine Snow Panel name changed from Hypogonadotropic hypogonadism idiopathic to Hypogonadotropic hypogonadism (GMS) List of related panels changed from R148 to Hypogonadotropic hypogonadism idiopathic; R148 |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | PLXNA3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PLXNA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | KLB | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KLB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | TCF12 | Catherine Snow Tag Q2_21_rating was removed from gene: TCF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SPRY4 |
Catherine Snow Tag Q3_22_rating was removed from gene: SPRY4. Tag Q3_22_expert_review was removed from gene: SPRY4. |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD |
Catherine Snow Tag Q2_21_expert_review was removed from gene: IL17RD. Tag Q2_21_MOI was removed from gene: IL17RD. |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD | Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains XX. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance."; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The additional comments from GLH's is "Possiblity of digenic/oligogenic inheritance." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | FGF17 |
Catherine Snow Tag Q3_22_rating was removed from gene: FGF17. Tag Q3_22_expert_review was removed from gene: FGF17. |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | DUSP6 |
Catherine Snow Tag Q3_22_rating was removed from gene: DUSP6. Tag Q3_22_expert_review was removed from gene: DUSP6. |
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| Hypogonadotropic hypogonadism (GMS) v2.5 | CPE | Catherine Snow Tag Q3_21_rating was removed from gene: CPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SOX10 | Catherine Snow Tag Q2_21_rating was removed from gene: SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Catherine Snow Tag Q3_22_rating was removed from gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | PLXNA3 | Catherine Snow Tag Q3_22_rating was removed from gene: PLXNA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | LEPR | Catherine Snow Tag Q2_21_rating was removed from gene: LEPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | LEP | Catherine Snow Tag Q2_21_rating was removed from gene: LEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | KLB | Catherine Snow Tag Q2_21_rating was removed from gene: KLB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | GNRH1 | Catherine Snow Tag Q2_21_rating was removed from gene: GNRH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | TCF12 | Catherine Snow commented on gene: TCF12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SPRY4 | Catherine Snow commented on gene: SPRY4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | IL17RD | Catherine Snow commented on gene: IL17RD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | FGF17 | Catherine Snow commented on gene: FGF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | DUSP6 | Catherine Snow commented on gene: DUSP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | CPE | Catherine Snow commented on gene: CPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SOX10 | Catherine Snow commented on gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | SEMA3F | Catherine Snow commented on gene: SEMA3F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | PLXNA3 | Catherine Snow commented on gene: PLXNA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | LEPR | Catherine Snow commented on gene: LEPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | LEP | Catherine Snow commented on gene: LEP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | KLB | Catherine Snow commented on gene: KLB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.5 | GNRH1 | Catherine Snow commented on gene: GNRH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.4 | SOX10 |
Catherine Snow Source Expert Review Green was added to SOX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | SEMA3F |
Catherine Snow Source Expert Review Green was added to SEMA3F. Source NHS GMS was added to SEMA3F. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | PLXNA3 |
Catherine Snow Source Expert Review Green was added to PLXNA3. Source NHS GMS was added to PLXNA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | LEPR |
Catherine Snow Source Expert Review Green was added to LEPR. Source NHS GMS was added to LEPR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | LEP |
Catherine Snow Source Expert Review Green was added to LEP. Source NHS GMS was added to LEP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | KLB |
Catherine Snow Source Expert Review Green was added to KLB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.4 | GNRH1 |
Catherine Snow Source Expert Review Green was added to GNRH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v2.3 | Achchuthan Shanmugasundram Panel version 2.2 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.2 | Achchuthan Shanmugasundram Panel signed off version 2.0 has been removed | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.1 | Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v2.0 | Eleanor Williams promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | FGF17 | Eleanor Williams commented on gene: FGF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | FGF17 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: FGF17. Tag Q3_22_rating tag was added to gene: FGF17. Tag Q3_22_expert_review tag was added to gene: FGF17. |
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| Hypogonadotropic hypogonadism (GMS) v1.54 | DUSP6 | Eleanor Williams commented on gene: DUSP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | DUSP6 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: DUSP6. Tag Q3_22_rating tag was added to gene: DUSP6. Tag Q3_22_expert_review tag was added to gene: DUSP6. |
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| Hypogonadotropic hypogonadism (GMS) v1.54 | CCDC141 | Eleanor Williams commented on gene: CCDC141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | CCDC141 | Eleanor Williams Tag Q2_21_expert_review was removed from gene: CCDC141. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | SPRY4 | Eleanor Williams commented on gene: SPRY4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | SPRY4 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: SPRY4. Tag Q3_22_rating tag was added to gene: SPRY4. Tag Q3_22_expert_review tag was added to gene: SPRY4. |
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| Hypogonadotropic hypogonadism (GMS) v1.54 | PLXNA3 | Ivone Leong Tag Q3_22_rating tag was added to gene: PLXNA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | PLXNA3 | Ivone Leong Classified gene: PLXNA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | PLXNA3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the expert review there is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.54 | PLXNA3 | Ivone Leong Gene: plxna3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Tag Q3_22_rating tag was added to gene: SEMA3F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Classified gene: SEMA3F as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the expert review there is sufficient evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.53 | SEMA3F | Ivone Leong Gene: sema3f has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.52 | PLXNA3 | Ivone Leong Phenotypes for gene: PLXNA3 were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism, MONDO:0018555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.51 | SEMA3F | Ivone Leong Phenotypes for gene: SEMA3F were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism, MONDO:0018555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.50 | NDNF | Ivone Leong Tag for-review was removed from gene: NDNF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.50 | NDNF | Ivone Leong commented on gene: NDNF: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.49 | NDNF |
Ivone Leong Source Expert Review Green was added to NDNF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v1.48 | SPRY4 | Ivone Leong Entity copied from Hypogonadotropic hypogonadism v1.33 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.48 | SPRY4 |
Ivone Leong gene: SPRY4 was added gene: SPRY4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Expert list,Literature monogenic-polygenic, Q2_21_expert_review tags were added to gene: SPRY4. Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRY4 were set to 23643382; 32389901 Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 Penetrance for gene: SPRY4 were set to Complete |
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| Hypogonadotropic hypogonadism (GMS) v1.47 | SLC29A3 | Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.46 | CPE | Arina Puzriakova Publications for gene: CPE were set to 26120850; 32936766 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.45 | CPE | Arina Puzriakova Classified gene: CPE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.45 | CPE | Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated families (5) reported in literature presenting a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.45 | CPE | Arina Puzriakova Gene: cpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.44 | CPE | Arina Puzriakova edited their review of gene: CPE: Added comment: Bosch et al. 2021 (PMID: 34383079) reported on 4 individuals from 3 additional families harbouring 2 different homozygous truncating variants in this gene. Clinical presentation was prominent for obesity and intellectual disability. Hypogonadotropic hypogonadism was confirmed in one individual and was suspected but not tested for in another two subjects.; Changed rating: GREEN; Changed publications to: 26120850, 32936766, 34383079; Changed phenotypes to: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.44 | CPE |
Arina Puzriakova Tag watchlist was removed from gene: CPE. Tag Q3_21_rating tag was added to gene: CPE. |
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| Hypogonadotropic hypogonadism (GMS) v1.44 | CLPP | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is currently not enough evidence to support a gene-disease association as the phenotypes among the patients vary. This gene has been given an Amber rating until more cases are available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.44 | CLPP |
Ivone Leong Tag Q3_21_rating was removed from gene: CLPP. Tag watchlist tag was added to gene: CLPP. |
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| Hypogonadotropic hypogonadism (GMS) v1.44 | CLPP | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.44 | CLPP |
Ivone Leong gene: CLPP was added gene: CLPP was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list,Expert Review Amber Q3_21_rating tags were added to gene: CLPP. Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 27899912; 23541340; 25956234; 26970254; 27087618; 27650058 Phenotypes for gene: CLPP were set to Perrault syndrome 3, OMIM:614129 |
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| Hypogonadotropic hypogonadism (GMS) v1.43 | SEMA3F |
Zornitza Stark gene: SEMA3F was added gene: SEMA3F was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3F were set to 33495532 Phenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism Review for gene: SEMA3F was set to GREEN Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.43 | PLXNA3 |
Zornitza Stark gene: PLXNA3 was added gene: PLXNA3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLXNA3 were set to 33495532 Phenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism Review for gene: PLXNA3 was set to GREEN Added comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants. In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.43 | CPE | Arina Puzriakova Entity copied from Intellectual disability v3.1142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.43 | CPE |
Arina Puzriakova gene: CPE was added gene: CPE was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CPE. Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPE were set to 26120850; 32936766 Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 |
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| Hypogonadotropic hypogonadism (GMS) v1.42 | IL17RD |
Ivone Leong edited their review of gene: IL17RD: Added comment: In addition to the review by Zornitza Stark (Australian Genomics), PMID: 23643382 states the following: "Collectively, these data indicate that IL17RD mutations are strongly associated with KS and hearing loss; however, one allelic defect is most likely not sufficient, meaning that additional affected alleles in the same and/or other genes must be present to create the phenotype of KS with hearing loss."; Changed rating: AMBER |
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| Hypogonadotropic hypogonadism (GMS) v1.42 | IL17RD | Ivone Leong Tag Q2_21_expert_review tag was added to gene: IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.42 | DUSP6 | Ivone Leong Classified gene: DUSP6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.42 | DUSP6 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 23643382 - 5 cases with variants in DUSP6 (3 of these cases have variants in other genes FGFR1 and SPRY4). PMID: 32389901 - 6 cases with variants in DUSP6 (1 case also has variants in CCDC141). Based on the available evidence this gene has been given an Amber rating and will be reviewed by the GMS specialist group. |
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| Hypogonadotropic hypogonadism (GMS) v1.42 | DUSP6 | Ivone Leong Gene: dusp6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | DUSP6 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: DUSP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 | Ivone Leong Classified gene: FGF17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 23643382 identfied 3 cases with variants in the FGF17 gene. However, 1 of these cases have variants in other genes as well (FLRT3, HS6ST1 and FGFR1). Based on the available evidence variants in this gene contribute to disease with variable penetrance. This gene has been given an Amber rating until further evidence is available. |
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| Hypogonadotropic hypogonadism (GMS) v1.41 | FGF17 | Ivone Leong Gene: fgf17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | FGF17 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGF17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong reviewed gene: IL17RD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong Tag Q2_21_MOI tag was added to gene: IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.40 | IL17RD | Ivone Leong Phenotypes for gene: IL17RD were changed from Hypogonadotropic hypogonadism type 18 (OMIM 615267) to Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.39 | IL17RD | Ivone Leong Publications for gene: IL17RD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.38 | DUSP6 | Ivone Leong Phenotypes for gene: DUSP6 were changed from Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269 to Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.37 | LEPR | Ivone Leong Tag Q2_21_rating tag was added to gene: LEPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.37 | LEPR | Ivone Leong Classified gene: LEPR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.37 | LEPR | Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.37 | LEPR | Ivone Leong Gene: lepr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.36 | LEPR | Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency (MIM#614963) to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.35 | LEP | Ivone Leong Classified gene: LEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.35 | LEP | Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.35 | LEP | Ivone Leong Gene: lep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.34 | LEP | Ivone Leong Tag Q2_21_rating tag was added to gene: LEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.34 | LEP | Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency (MIM#614962) to Obesity, morbid, due to leptin deficiency, OMIM:614962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.33 | GNRH1 | Ivone Leong commented on gene: GNRH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.33 | GNRH1 | Ivone Leong Tag Q2_21_rating tag was added to gene: GNRH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.33 | GNRH1 | Ivone Leong Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 to ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.32 | GNRH1 | Ivone Leong Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism type 12 (OMIM 614841) to Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.31 | GNRH1 | Ivone Leong Publications for gene: GNRH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.30 | KLB | Ivone Leong Classified gene: KLB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.30 | KLB |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review: "Rachel Jones (GSTT) Green List (high evidence) Publication by Pitteloud et al: "Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21." They also included functional analysis and showed decreased activity in response to FGF21 and FGF8 KLB is an obligate coreceptor for FGF21 alongside FGFR1 Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m. Panel Version: 1.27 Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes hypogonadotrophic hypogonadism Publications PMID: 28754744 Created: 10 Mar 2020, 10:55 a.m. Last Modified: 10 Mar 2020, 10:55 a.m. Panel version: 1.27" There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Hypogonadotropic hypogonadism (GMS) v1.30 | KLB | Ivone Leong Gene: klb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.29 | KLB | Ivone Leong Tag Q2_21_rating tag was added to gene: KLB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.29 | KLB | Ivone Leong Publications for gene: KLB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.28 | SOX10 | Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.27 | SOX10 | Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.26 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.25 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.24 | NSMF | Ivone Leong Classified gene: NSMF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.24 | NSMF | Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red as per my previous comment. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.24 | NSMF | Ivone Leong Gene: nsmf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.23 | NSMF | Ivone Leong Publications for gene: NSMF were set to 15362570; 17235395; 21700882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.22 | NSMF | Ivone Leong reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 27803842; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.22 | SOX10 | Ivone Leong Publications for gene: SOX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.21 | NSMF | Ivone Leong Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.20 | NSMF | Ivone Leong Publications for gene: NSMF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.19 | FGF17 | Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.18 | TCF12 | Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.18 | TCF12 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.18 | TCF12 | Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.17 | TCF12 | Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.17 | TCF12 | Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.16 | IGSF10 | Ivone Leong Tag watchlist tag was added to gene: IGSF10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.16 | IGSF10 | Ivone Leong Classified gene: IGSF10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.16 | IGSF10 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.16 | IGSF10 | Ivone Leong Gene: igsf10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.15 | CCDC141 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: CCDC141. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.15 | CCDC141 | Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.15 | CCDC141 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141. PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected. PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH. PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration. After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England): "...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)." |
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| Hypogonadotropic hypogonadism (GMS) v1.15 | CCDC141 | Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.14 | CCDC141 | Ivone Leong Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to Anosmic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism, MONDO:0015770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.13 | CCDC141 | Ivone Leong Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.12 | FEZF1 | Ivone Leong Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.11 | CCDC141 |
Zornitza Stark gene: CCDC141 was added gene: CCDC141 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: CCDC141 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046 Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism Review for gene: CCDC141 was set to AMBER Added comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.11 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.10 | NDNF | Arina Puzriakova Classified gene: NDNF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.10 | NDNF | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.10 | NDNF | Arina Puzriakova Gene: ndnf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.9 | NDNF | Arina Puzriakova Tag for-review tag was added to gene: NDNF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.9 | TCF12 | Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | IGSF10 |
Zornitza Stark gene: IGSF10 was added gene: IGSF10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: IGSF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGSF10 were set to 27137492; 31042289 Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism; primary ovary insufficiency Review for gene: IGSF10 was set to AMBER Added comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | TCF12 |
Zornitza Stark gene: TCF12 was added gene: TCF12 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF12 were set to 23354436; 32620954 Phenotypes for gene: TCF12 were set to Craniosynostosis 3, MIM# 615314; Kallman syndrome Review for gene: TCF12 was set to GREEN Added comment: Well established gene-disease association with craniosynostosis with 38 unrelated families reported in the original gene discovery paper alone. New association with Kallman syndrome reported in PMID 32620954 (13 families, all but one mono-allelic variants), though note some individuals also had craniosynostosis so may represent a spectrum. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | NSMF | Zornitza Stark reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 15362570, 17235395, 21700882; Phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | SOX10 | Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 15004559; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | KLB | Zornitza Stark reviewed gene: KLB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28754744; Phenotypes: Hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | IL17RD | Zornitza Stark reviewed gene: IL17RD: Rating: AMBER; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | GNRH1 | Zornitza Stark reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19535795, 19567835, 32134721, 31200363, 26595427; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | LEP |
Zornitza Stark gene: LEP was added gene: LEP was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEP were set to 26567097; 31483094 Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency (MIM#614962) Review for gene: LEP was set to GREEN gene: LEP was marked as current diagnostic Added comment: Hypogonadotropic hypogonadism is a feature of congenital leptin deficiency. Sources: Expert list |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | LEPR |
Zornitza Stark gene: LEPR was added gene: LEPR was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEPR were set to 17229951; 29545012 Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Review for gene: LEPR was set to GREEN gene: LEPR was marked as current diagnostic Added comment: >5 families reported. Hypogonadotropic hypogonadism is a feature of the phenotype. Sources: Expert list |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | FGF17 |
Zornitza Stark gene: FGF17 was added gene: FGF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF17 were set to 23643382; 31748124 Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 Penetrance for gene: FGF17 were set to Incomplete Review for gene: FGF17 was set to AMBER Added comment: PMID: 23643382 - 3 individuals with Kallman syndrome or idiopathic hypogonadotropic hypogonadism (IHH). Functional studies on missense showed reduced protein expression and destabilization, one individual had additional variants in other genes. PMID: 31748124 - 3 individuals with IHH, where two individuals inherited variants from unaffected parents. Sources: Expert list |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | DUSP6 |
Zornitza Stark gene: DUSP6 was added gene: DUSP6 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DUSP6 were set to 23643382; 32389901 Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269 Review for gene: DUSP6 was set to GREEN gene: DUSP6 was marked as current diagnostic Added comment: PMID: 23643382 - 5 individuals with congenital hypogonadotrophic hypogonadism (CHH) (3 carry additional variants in FGFR1, SPRY4) PMID: 32389901 - 6 individuals with isolated HH, 3 also had cryptorchidism. Sources: Expert list |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | NDNF | Ivone Leong Classified gene: NDNF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.8 | NDNF |
Ivone Leong Added comment: Comment on list classification: Gene added by expert reviewer (Simon Thomas (Wessex)) with suggested Green rating. The gene is associated with a relevent disease in OMIM and is probably associated with a relevent disease in Gene2Phentoype. There are 3 unrelated cases. Therefore, there is enough evidence to support this gene-disease phenotype. |
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| Hypogonadotropic hypogonadism (GMS) v1.8 | NDNF | Ivone Leong Gene: ndnf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.7 | NDNF | Ivone Leong Phenotypes for gene: NDNF were changed from Congenital hypogonadotropic hypogonadism (CHH) to Congenital hypogonadotropic hypogonadism (CHH); Hypogonadotropic hypogonadism 25 with anosmia, 618841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.6 | NDNF | Ivone Leong Publications for gene: NDNF were set to PMID: 31883645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.5 | Ellen McDonagh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.2 | NDNF |
Simon Thomas gene: NDNF was added gene: NDNF was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDNF were set to PMID: 31883645 Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH) Penetrance for gene: NDNF were set to unknown Review for gene: NDNF was set to GREEN gene: NDNF was marked as current diagnostic Added comment: Messina et al (Am J Hum Genet Jan 2020) screened NDNF (Neuron-Derived Neurotrophic Factor) because, in common with several IHH genes, it contains a fibronectin-3 (FN3) domain. Three heterozygous protein-truncating variants and one heterozygous missense variant were identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models. Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v1.1 | ANOS1 | Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.1 | ANOS1 | Ivone Leong Mode of inheritance for gene: ANOS1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.28 |
Ivone Leong List of related panels changed from to R148 Panel types changed to GMS Rare Disease Virtual; GMS signed-off |
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| Hypogonadotropic hypogonadism (GMS) v0.27 | SOX2 | Ivone Leong Classified gene: SOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.27 | SOX2 | Ivone Leong Gene: sox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.26 | SLC29A3 | Ivone Leong Classified gene: SLC29A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.26 | SLC29A3 | Ivone Leong Gene: slc29a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.25 | NSMF | Ivone Leong Classified gene: NSMF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.25 | NSMF | Ivone Leong Gene: nsmf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.24 | GNRH1 | Ivone Leong Classified gene: GNRH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.24 | GNRH1 | Ivone Leong Gene: gnrh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.23 | FEZF1 | Ivone Leong Classified gene: FEZF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.23 | FEZF1 | Ivone Leong Gene: fezf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.22 | DCAF17 | Ivone Leong Classified gene: DCAF17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.22 | DCAF17 | Ivone Leong Gene: dcaf17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.21 | WDR11 | Ivone Leong Classified gene: WDR11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.21 | WDR11 | Ivone Leong Gene: wdr11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.20 | TACR3 | Ivone Leong Classified gene: TACR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.20 | TACR3 | Ivone Leong Gene: tacr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.19 | TAC3 | Ivone Leong Classified gene: TAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.19 | TAC3 | Ivone Leong Gene: tac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.18 | PROKR2 | Ivone Leong Classified gene: PROKR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.18 | PROKR2 | Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.17 | PROK2 | Ivone Leong Classified gene: PROK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.17 | PROK2 | Ivone Leong Gene: prok2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.16 | LHB | Ivone Leong Classified gene: LHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.16 | LHB | Ivone Leong Gene: lhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.15 | KISS1R | Ivone Leong Classified gene: KISS1R as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.15 | KISS1R | Ivone Leong Gene: kiss1r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.14 | IL17RD | Ivone Leong Classified gene: IL17RD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.14 | IL17RD | Ivone Leong Gene: il17rd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.13 | GNRHR | Ivone Leong Classified gene: GNRHR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.13 | GNRHR | Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.12 | FSHB | Ivone Leong Classified gene: FSHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.12 | FSHB | Ivone Leong Gene: fshb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.11 | FGFR1 | Ivone Leong Classified gene: FGFR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.11 | FGFR1 | Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.10 | FGF8 | Ivone Leong Classified gene: FGF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.10 | FGF8 | Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.9 | CHD7 | Ivone Leong Classified gene: CHD7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.9 | CHD7 | Ivone Leong Gene: chd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.8 | ANOS1 | Ivone Leong Classified gene: ANOS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.8 | ANOS1 | Ivone Leong Gene: anos1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | KLB | Simon Thomas reviewed gene: KLB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SOX3 | Simon Thomas reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | WDR11 | Simon Thomas reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | TFR2 | Simon Thomas reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | TACR3 | Simon Thomas reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | TAC3 | Simon Thomas reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SOX2 | Simon Thomas reviewed gene: SOX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SOX10 | Simon Thomas reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SLC40A1 | Simon Thomas reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | SLC29A3 | Simon Thomas reviewed gene: SLC29A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | PROP1 | Simon Thomas reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | PROKR2 | Simon Thomas reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | PROK2 | Simon Thomas reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | NSMF | Simon Thomas reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | NR0B1 | Simon Thomas reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | LHX4 | Simon Thomas reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | LHB | Simon Thomas reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | KISS1R | Simon Thomas reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | IL17RD | Simon Thomas reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | HFE | Simon Thomas reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | HAMP | Simon Thomas reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | GNRHR | Simon Thomas reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | GNRH1 | Simon Thomas reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | GLI2 | Simon Thomas reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | FSHB | Simon Thomas reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | FGFR1 | Simon Thomas reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | FGF8 | Simon Thomas reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | FEZF1 | Simon Thomas reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | DCAF17 | Simon Thomas reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | CUL4B | Simon Thomas reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | CHD7 | Simon Thomas reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.7 | ANOS1 | Simon Thomas reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | KLB |
Ivone Leong gene: KLB was added gene: KLB was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism |
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| Hypogonadotropic hypogonadism (GMS) v0.6 | SOX3 |
Ivone Leong gene: SOX3 was added gene: SOX3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked |
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| Hypogonadotropic hypogonadism (GMS) v0.6 | WDR11 | Ivone Leong Source Wessex and West Midlands GLH was added to WDR11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | TFR2 | Ivone Leong Source Wessex and West Midlands GLH was added to TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | TACR3 | Ivone Leong Source Wessex and West Midlands GLH was added to TACR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | TAC3 | Ivone Leong Source Wessex and West Midlands GLH was added to TAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | SOX2 | Ivone Leong Source Wessex and West Midlands GLH was added to SOX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | SOX10 | Ivone Leong Source Wessex and West Midlands GLH was added to SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | SLC40A1 | Ivone Leong Source Wessex and West Midlands GLH was added to SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | SLC29A3 | Ivone Leong Source Wessex and West Midlands GLH was added to SLC29A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | PROP1 | Ivone Leong Source Wessex and West Midlands GLH was added to PROP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | PROKR2 | Ivone Leong Source Wessex and West Midlands GLH was added to PROKR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | PROK2 | Ivone Leong Source Wessex and West Midlands GLH was added to PROK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | NSMF | Ivone Leong Source Wessex and West Midlands GLH was added to NSMF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | NR0B1 | Ivone Leong Source Wessex and West Midlands GLH was added to NR0B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | LHX4 | Ivone Leong Source Wessex and West Midlands GLH was added to LHX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | LHB | Ivone Leong Source Wessex and West Midlands GLH was added to LHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | KISS1R | Ivone Leong Source Wessex and West Midlands GLH was added to KISS1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | IL17RD | Ivone Leong Source Wessex and West Midlands GLH was added to IL17RD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | HFE | Ivone Leong Source Wessex and West Midlands GLH was added to HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | HAMP | Ivone Leong Source Wessex and West Midlands GLH was added to HAMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | GNRHR | Ivone Leong Source Wessex and West Midlands GLH was added to GNRHR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | GNRH1 | Ivone Leong Source Wessex and West Midlands GLH was added to GNRH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | GLI2 | Ivone Leong Source Wessex and West Midlands GLH was added to GLI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FSHB | Ivone Leong Source Wessex and West Midlands GLH was added to FSHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FGFR1 | Ivone Leong Source Wessex and West Midlands GLH was added to FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FGF8 | Ivone Leong Source Wessex and West Midlands GLH was added to FGF8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FEZF1 | Ivone Leong Source Wessex and West Midlands GLH was added to FEZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | DCAF17 | Ivone Leong Source Wessex and West Midlands GLH was added to DCAF17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | CUL4B | Ivone Leong Source Wessex and West Midlands GLH was added to CUL4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | CHD7 | Ivone Leong Source Wessex and West Midlands GLH was added to CHD7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | ANOS1 | Ivone Leong Source Wessex and West Midlands GLH was added to ANOS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | TFR2 | Martina Owens reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | SOX10 | Martina Owens reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | SLC40A1 | Martina Owens reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | PROP1 | Martina Owens reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | NR0B1 | Martina Owens reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | LHX4 | Martina Owens reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | HFE | Martina Owens reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | HAMP | Martina Owens reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | GLI2 | Martina Owens reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | CUL4B | Martina Owens reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | WDR11 | Martina Owens reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | TACR3 | Martina Owens reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | TAC3 | Martina Owens reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | SOX2 | Martina Owens reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | SLC29A3 | Martina Owens reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | PROKR2 | Martina Owens reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | PROK2 | Martina Owens reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | NSMF | Martina Owens reviewed gene: NSMF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | LHB | Martina Owens reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | KISS1R | Martina Owens reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | IL17RD | Martina Owens reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | GNRHR | Martina Owens reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | GNRH1 | Martina Owens reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FSHB | Martina Owens reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FGFR1 | Martina Owens reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FGF8 | Martina Owens reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FEZF1 | Martina Owens reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | DCAF17 | Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | CHD7 | Martina Owens reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | ANOS1 | Martina Owens reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | WDR11 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 14 (OMIM 614858) for gene: WDR11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | TFR2 | Ivone Leong Added phenotypes Haemochromatosis type 3 (OMIM 604250) for gene: TFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | TACR3 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 11(OMIM 614840) for gene: TACR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | TAC3 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 10(OMIM 614839) for gene: TAC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | SOX2 | Ivone Leong Added phenotypes Syndromic Microphthalmia type 3 (OMIM 206900) for gene: SOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | SOX10 | Ivone Leong Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | SLC40A1 | Ivone Leong Added phenotypes Haemochromatosis type 4 (OMIM 606069) for gene: SLC40A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | SLC29A3 | Ivone Leong Added phenotypes Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism for gene: SLC29A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | PROP1 | Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | PROKR2 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 3 (OMIM 244200) for gene: PROKR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | PROK2 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 4 (OMIM 610628) for gene: PROK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | NSMF | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 9 (OMIM 614838) for gene: NSMF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | NR0B1 | Ivone Leong Added phenotypes 46XY sex reversal type 2 (OMIM 300018) for gene: NR0B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | LHX4 | Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262700) for gene: LHX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | LHB | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 23 (OMIM 228300) for gene: LHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | KISS1R | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 8 (OMIM 614837) for gene: KISS1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | IL17RD | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | HFE | Ivone Leong Added phenotypes Haemochromatosis type 1 (OMIM 235200) for gene: HFE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | HAMP | Ivone Leong Added phenotypes Haemochromatosis type 2B (OMIM 613313) for gene: HAMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | GNRHR | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 7 (OMIM 146110) for gene: GNRHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | GNRH1 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 12 (OMIM 614841) for gene: GNRH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | GLI2 | Ivone Leong Added phenotypes Culler-Jones syndrome (OMIM 615849) for gene: GLI2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FSHB | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 24 (OMIM 229070) for gene: FSHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FGFR1 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950) for gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FGF8 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 6 (OMIM 612702) for gene: FGF8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FEZF1 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | DCAF17 | Ivone Leong Added phenotypes Woodhouse-Sakati syndrome (OMIM 241080) for gene: DCAF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | CUL4B | Ivone Leong Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | CHD7 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 5 (OMIM 612370) for gene: CHD7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | ANOS1 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 1 (OMIM 308700) for gene: ANOS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.3 | WDR11 |
Ivone Leong gene: WDR11 was added gene: WDR11 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | TFR2 |
Ivone Leong gene: TFR2 was added gene: TFR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | TACR3 |
Ivone Leong gene: TACR3 was added gene: TACR3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | TAC3 |
Ivone Leong gene: TAC3 was added gene: TAC3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | SOX2 |
Ivone Leong gene: SOX2 was added gene: SOX2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | SOX10 |
Ivone Leong gene: SOX10 was added gene: SOX10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | SLC40A1 |
Ivone Leong gene: SLC40A1 was added gene: SLC40A1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | SLC29A3 |
Ivone Leong gene: SLC29A3 was added gene: SLC29A3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | PROP1 |
Ivone Leong gene: PROP1 was added gene: PROP1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | PROKR2 |
Ivone Leong gene: PROKR2 was added gene: PROKR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: PROKR2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | PROK2 |
Ivone Leong gene: PROK2 was added gene: PROK2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: PROK2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | NSMF |
Ivone Leong gene: NSMF was added gene: NSMF was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: NSMF was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | NR0B1 |
Ivone Leong gene: NR0B1 was added gene: NR0B1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | LHX4 |
Ivone Leong gene: LHX4 was added gene: LHX4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | LHB |
Ivone Leong gene: LHB was added gene: LHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | KISS1R |
Ivone Leong gene: KISS1R was added gene: KISS1R was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | IL17RD |
Ivone Leong gene: IL17RD was added gene: IL17RD was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: IL17RD was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | HFE |
Ivone Leong gene: HFE was added gene: HFE was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | HAMP |
Ivone Leong gene: HAMP was added gene: HAMP was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | GNRHR |
Ivone Leong gene: GNRHR was added gene: GNRHR was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | GNRH1 |
Ivone Leong gene: GNRH1 was added gene: GNRH1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | GLI2 |
Ivone Leong gene: GLI2 was added gene: GLI2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | FSHB |
Ivone Leong gene: FSHB was added gene: FSHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | FGFR1 |
Ivone Leong gene: FGFR1 was added gene: FGFR1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FGFR1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | FGF8 |
Ivone Leong gene: FGF8 was added gene: FGF8 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FGF8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | FEZF1 |
Ivone Leong gene: FEZF1 was added gene: FEZF1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | DCAF17 |
Ivone Leong gene: DCAF17 was added gene: DCAF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | CUL4B |
Ivone Leong gene: CUL4B was added gene: CUL4B was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | CHD7 |
Ivone Leong gene: CHD7 was added gene: CHD7 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Hypogonadotropic hypogonadism (GMS) v0.3 | ANOS1 |
Ivone Leong gene: ANOS1 was added gene: ANOS1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: ANOS1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Hypogonadotropic hypogonadism (GMS) v0.1 | Ivone Leong Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.0 |
Ivone Leong Added Panel Hypogonadotropic hypogonadism idiopathic Set panel types to: GMS Rare Disease Virtual |
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