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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 commented on SPRY4
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh classified SPRY4 as green
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