Activity
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22 actions
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| Hypogonadotropic hypogonadism (GMS) v4.3 | FEZF1 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: FEZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v4.3 | FEZF1 | Arina Puzriakova reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v4.2 | FEZF1 |
Arina Puzriakova Source Expert Review Green was added to FEZF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Classified gene: FEZF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and some functional evidence available in support of the association of this gene to hypogonadotropic hypogonadism. Hence, this gene can be rated green on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Gene: fezf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.19 | FEZF1 | Achchuthan Shanmugasundram Publications for gene: FEZF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FEZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 |
Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant. This gene has been associated with relevant phenotypes in OMIM (MIM #616030) and Gene2Phenotype (with 'strong' rating on the DD panel) |
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| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram edited their review of gene: FEZF1: Changed publications to: 25192046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) v1.12 | 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) 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) v0.7 | FEZF1 | Simon Thomas reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.6 | FEZF1 | Ivone Leong Source Wessex and West Midlands GLH was added to FEZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.5 | FEZF1 | Martina Owens reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v0.4 | FEZF1 | Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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