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Mendeliome v1.2118 CCR2 Bryony Thompson Phenotypes for gene: CCR2 were changed from {HIV infection, susceptibility/resistance to} to {HIV infection, susceptibility/resistance to}; Polycystic lung disease MIM#219600
Mendeliome v1.2117 CCR2 Bryony Thompson Publications for gene: CCR2 were set to 34516427; 17504215; 15167933; 17604544
Mendeliome v1.2116 CCR2 Bryony Thompson Mode of inheritance for gene: CCR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2115 CCR2 Bryony Thompson Classified gene: CCR2 as Green List (high evidence)
Mendeliome v1.2115 CCR2 Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v1.2114 CCR2 Bryony Thompson reviewed gene: CCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38157855; Phenotypes: Polycystic lung disease MIM#219600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1330 LRRC23 Belinda Chong gene: LRRC23 was added
gene: LRRC23 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC23 were set to 37804054
Phenotypes for gene: LRRC23 were set to Non-syndromic male infertility due to sperm motility disorder MONDO:0017173
Review for gene: LRRC23 was set to RED
Added comment: PMID 37804054: A homozygous nonsense mutation in LRRC23 (c.376C>T: p. Arg126X) in an infertile AZS patient whose parents were consanguineous. We verified the adversity of this novel mutation because of its ability to disrupt LRRC23 synthesis and impair RSs integrity. Furthermore, we demonstrated an interaction between LRRC23 and RSPH3 in vitro, indicating that LCCR23 is associated with RS in humans. Meanwhile, the LRRC23-mutant patient had a good prognosis following intracytoplasmic sperm injection.
Sources: Literature
Mendeliome v0.12867 CCR2 Zornitza Stark Mode of inheritance for gene: CCR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12839 CCR2 Ain Roesley Phenotypes for gene: CCR2 were changed from to {HIV infection, susceptibility/resistance to}
Mendeliome v0.12839 CCR2 Ain Roesley Publications for gene: CCR2 were set to
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed publications: 34516427, 17504215, 15167933, 17604544
Mendeliome v0.12838 CCR2 Ain Roesley changed review comment from: Currently no mendelian gene-disease association; to: Vall64Ile has been associated with reduction in the progression to AIDS. Mutant results in normal expression levels of the CCR2 receptor and has no effect on the incidence of HIV infection. However, in contrast to normal CCR2 peptides, the mutant protein preferentially dimerizes with the CXCR4 polypeptide, isolating it in the endoplasmic reticulum. It is also thought that the inhibitory effect is dependent on the stages of HIV-1 infection and interactions with other genetic variants.
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed phenotypes: {HIV infection, susceptibility/resistance to}
Mendeliome v0.12838 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12838 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12837 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12837 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley Marked gene: CCR2 as ready
Mendeliome v0.12836 CCR2 Ain Roesley Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley reviewed gene: CCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.0 CCR2 Zornitza Stark gene: CCR2 was added
gene: CCR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCR2 was set to Unknown