Activity

Filter

Cancel
Date Panel Item Activity
86 actions
Hypogonadotropic hypogonadism v1.41 KISS1R Arina Puzriakova Phenotypes for gene: KISS1R were changed from Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400 to Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837; ?Precocious puberty, central, 1, OMIM:176400
Hypogonadotropic hypogonadism v1.40 NSMF Arina Puzriakova changed review comment from: 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 only partially explains the phenotype in some cases due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1.; to: 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 only partially explains the phenotype in some cases due to oligogenic variants in other genes such as FGFR1 and HS6ST1.
Hypogonadotropic hypogonadism v1.40 NSMF Arina Puzriakova changed review comment from: 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.; to: 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 only partially explains the phenotype in some cases due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1.
Hypogonadotropic hypogonadism v1.40 NSMF Arina Puzriakova Classified gene: NSMF as Red List (low evidence)
Hypogonadotropic hypogonadism v1.40 NSMF Arina Puzriakova Added comment: Comment on list classification: Downgrading from Green to Red to align with the classification on the GMS equivalent panel (https://panelapp.genomicsengland.co.uk/panels/650/gene/NSMF/).

Review by Zornitza Stark (Australian Genomics) - 18 Jul 2020
"Rare variants reported in individuals with IHH; however, variants in other IHH genes also present, and at least one of the variants has a very high population frequency in gnomad (intronic 8-bp deletion ending 14 bp before exon 10 (1159-14_-22del), present in 258 individuals)."

Review by Ivone Leong (Genomics England Curator) - 24 Mar 2021
"This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:27803842 describes a murine Nsmf knockout model that shows that Nsmf does not have a role in the migration of GnRH-positive neurons during early development.
Given the available evidence, this gene should be demoted to Red status."
Hypogonadotropic hypogonadism v1.40 NSMF Arina Puzriakova Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v1.39 NSMF Arina Puzriakova Publications for gene: NSMF were set to 15362570; 17235395; 21300340
Hypogonadotropic hypogonadism v1.38 NSMF Arina Puzriakova Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism 9 with or without anosmia, 614838; Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Hypogonadotropic hypogonadism v1.37 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 v1.37 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 v1.36 HFE Arina Puzriakova Phenotypes for gene: HFE were changed from Hemochromatosis, 235200 to Hemochromatosis, OMIM:235200
Hypogonadotropic hypogonadism v1.35 HESX1 Arina Puzriakova Phenotypes for gene: HESX1 were changed from Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230 to Growth hormone deficiency with pituitary anomalies, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230
Hypogonadotropic hypogonadism v1.34 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Hypogonadotropic hypogonadism v1.33 SPRY4 Ivone Leong Tag Q2_21_expert_review was removed from gene: SPRY4.
Hypogonadotropic hypogonadism v1.33 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 v1.33 CLPP Ivone Leong Tag Q3_21_rating was removed from gene: CLPP.
Tag watchlist tag was added to gene: CLPP.
Hypogonadotropic hypogonadism v1.33 CLPP Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.189
Hypogonadotropic hypogonadism v1.33 CLPP Ivone Leong gene: CLPP was added
gene: CLPP was added to Hypogonadotropic hypogonadism. 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
Hypogonadotropic hypogonadism v1.32 SPRY4 Ivone Leong Publications for gene: SPRY4 were set to 23643382
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Tag Q2_21_expert_review tag was added to gene: SPRY4.
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Classified gene: SPRY4 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

PMID:23643382 - 14 unrelated cases had variants in SPRY4, 3 cases had variants in other genes (DUSP6 and FGFR1).

PMID: 32389901 - 1 cases had variants in SPRY4 and PLXNA1.

Based on the available evidence, this variants in this gene may contribute to disease. Therefore this gene has been promoted from Red to Amber.
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Gene: spry4 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v1.30 SPRY4 Ivone Leong Phenotypes for gene: SPRY4 were changed from Hypogonadotropic hypogonadism 17 with or without anosmia 615266 to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266
Hypogonadotropic hypogonadism v1.29 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 v1.28 KLB Ivone Leong Classified gene: KLB as Green List (high evidence)
Hypogonadotropic hypogonadism v1.28 KLB Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review (Rachel Jones (GSTT))
Hypogonadotropic hypogonadism v1.28 KLB Ivone Leong Gene: klb has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v1.27 KLB Rachel Jones reviewed gene: KLB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28754744; Phenotypes: hypogonadotrophic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v1.27 ANOS1 Eleanor Williams changed review comment from: Comment on mode of inheritance: Updating the mode of inheritance from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This gene is not in the pseudoautosomal region of the X chromosome.; to: Comment on mode of inheritance: Updating the mode of inheritance from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This gene is not in the pseudoautosomal region of the X chromosome. Mode of inhertiance in OMIM is XLR for Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) and several papers support this e.g. PMID: 15001591 - reports only male cases with ANOS1 variants, with female carriers, PMID: 11297579 - reports male cases and states that obligate female carriers in families with KAL mutations have no discernible phenotype.
Hypogonadotropic hypogonadism v1.27 ANOS1 Eleanor Williams Added comment: Comment on mode of inheritance: Updating the mode of inheritance from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This gene is not in the pseudoautosomal region of the X chromosome.
Hypogonadotropic hypogonadism v1.27 ANOS1 Eleanor Williams 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 v1.25 Ivone Leong Panel types changed to Rare Disease 100K
Hypogonadotropic hypogonadism v1.24 KLB Anna de Burca gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism. Sources: Expert list
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism
Review for gene: KLB was set to AMBER
Added comment: Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list
Hypogonadotropic hypogonadism v1.23 SOX3 Anna de Burca gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism. Sources: Expert list
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
Review for gene: SOX3 was set to AMBER
Added comment: Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and Anna de Burca (Genomics England Curator).
Hypogonadotropic hypogonadism v1.22 CCDC141 Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Classified gene: DCAF17 as Green List (high evidence)
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) and the evidence presented in her review.
Hypogonadotropic hypogonadism v1.21 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism v1.20 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Normosmic IHH to Normosmic IHH (no OMIM)
Hypogonadotropic hypogonadism v1.19 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to PMID: 28324054
Hypogonadotropic hypogonadism v1.18 DCAF17 Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19026396, 20507343, 29178422; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism v1.18 CCDC141 Martina Owens reviewed gene: CCDC141: Rating: AMBER; Mode of pathogenicity: ; Publications: 28324054, 27014940; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism v1.17 CCDC141 Anna de Burca gene: CCDC141 was added
gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: CCDC141 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC141 were set to PMID: 28324054
Phenotypes for gene: CCDC141 were set to Normosmic IHH
Review for gene: CCDC141 was set to AMBER
Added comment: Only one publication, but describes 9 affected individuals from four families and includes functional evidence.
Sources: Literature
Hypogonadotropic hypogonadism v1.15 Ellen McDonagh Panel name changed from Idiopathic hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism
List of related panels changed from Kallmann syndrome; Kallmann syndrom to Kallmann syndrome; Kallmann syndrom; Idiopathic hypogonadotropic hypogonadism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Hypogonadotropic hypogonadism HFE2 Louise Daugherty commented on HFE2
Hypogonadotropic hypogonadism TFR2 Sarah Leigh classified TFR2 as green
Hypogonadotropic hypogonadism TFR2 Sarah Leigh added TFR2 to panel
Hypogonadotropic hypogonadism TFR2 Sarah Leigh reviewed TFR2
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh classified SLC40A1 as green
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh added SLC40A1 to panel
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh reviewed SLC40A1
Hypogonadotropic hypogonadism HFE2 Sarah Leigh added HFE2 to panel
Hypogonadotropic hypogonadism HFE2 Sarah Leigh reviewed HFE2
Hypogonadotropic hypogonadism HFE Sarah Leigh classified HFE as green
Hypogonadotropic hypogonadism HFE Sarah Leigh added HFE to panel
Hypogonadotropic hypogonadism HFE Sarah Leigh reviewed HFE
Hypogonadotropic hypogonadism HAMP Sarah Leigh classified HAMP as green
Hypogonadotropic hypogonadism HAMP Sarah Leigh added HAMP to panel
Hypogonadotropic hypogonadism HAMP Sarah Leigh reviewed HAMP
Hypogonadotropic hypogonadism KAL1 Louise Daugherty commented on KAL1
Hypogonadotropic hypogonadism Ellen McDonagh promoted panel to version 1
Hypogonadotropic hypogonadism SEMA3A Ellen McDonagh classified SEMA3A as red
Hypogonadotropic hypogonadism SEMA3A Ellen McDonagh commented on SEMA3A
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh classified SPRY4 as red
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh classified SPRY4 as green
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh commented on SPRY4
Hypogonadotropic hypogonadism PROKR2 Ellen McDonagh commented on PROKR2
Hypogonadotropic hypogonadism PROK2 Ellen McDonagh commented on PROK2
Hypogonadotropic hypogonadism NSMF Ellen McDonagh commented on NSMF
Hypogonadotropic hypogonadism KAL1 Ellen McDonagh commented on KAL1
Hypogonadotropic hypogonadism IL17RD Ellen McDonagh commented on IL17RD
Hypogonadotropic hypogonadism FGFR1 Ellen McDonagh commented on FGFR1
Hypogonadotropic hypogonadism DCAF17 Sarah Leigh marked DCAF17 as ready
Hypogonadotropic hypogonadism DCAF17 Sarah Leigh commented on DCAF17
Hypogonadotropic hypogonadism SOX2 Sarah Leigh classified SOX2 as green
Hypogonadotropic hypogonadism SLC29A3 Sarah Leigh classified SLC29A3 as green
Hypogonadotropic hypogonadism FLRT3 Sarah Leigh marked FLRT3 as ready
Hypogonadotropic hypogonadism SEMA3E Sarah Leigh classified SEMA3E as red
Hypogonadotropic hypogonadism LHX4 Sarah Leigh classified LHX4 as green
Hypogonadotropic hypogonadism HS6ST1 Sarah Leigh classified HS6ST1 as red
Hypogonadotropic hypogonadism IL17RD Sarah Leigh classified IL17RD as green
Hypogonadotropic hypogonadism DCAF17 Ellen McDonagh added DCAF17 to panel
Hypogonadotropic hypogonadism DCAF17 Ellen McDonagh reviewed DCAF17