PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Mendeliome v2.0 RXFP2 Gene migrated from ENSG00000133105 to ENSG00000133105 (gene set migration)
Mendeliome v1.4352 INSL3 Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 41369823 reports two unrelated Chinese Han individuals with homozygous frameshift INSL3 variants presenting with bilateral cryptorchidism, testicular atrophy, azoospermia and elevated FSH/LH. Functional assays (Western blot, immunofluorescence, Co‑IP) showed truncated proteins and loss of RXFP2 interaction; structural modelling predicted abnormal protein conformation; Changed publications: 12601553, 12970298, 11095425, 41369823
Mendeliome v1.2774 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from Cryptorchidism to Infertility; cryptorchidism; non-obstructive azoospermia
Mendeliome v1.2773 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to 31167797; 20963592
Mendeliome v1.2772 RXFP2 Zornitza Stark Classified gene: RXFP2 as Green List (high evidence)
Mendeliome v1.2772 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Green List (High Evidence).
Mendeliome v1.2771 RXFP2 Zornitza Stark edited their review of gene: RXFP2: Added comment: New literature PMID: 39222519- a compound heterozygous variant (intragenic deletion of exon 1-5 and missense variant p.Glu77Lys) in a family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism. The Glu77Lys mutant showed no cAMP activity and hence failed to signal in response to INSL3, confirming a loss-of-function mechanism.; Changed rating: GREEN; Changed publications: 31167797, 20963592, 39222519
Mendeliome v1.1621 RXFP2 Katie Ayers reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37208861, 38430325; Phenotypes: Infertility, cryptorchidism, non-obstructive azoospermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2384 RXFP2 Alison Yeung Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2384 RXFP2 Alison Yeung Added comment: Comment on list classification: Only single reported family with animal model reported. Both reviews to date are based on same publication. No new publications/reported cases since this one.
Mendeliome v0.2384 RXFP2 Alison Yeung Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2382 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Mendeliome v0.2382 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2382 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Mendeliome v0.2381 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mendeliome v0.2380 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2379 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2379 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2378 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 RXFP2 Teresa Zhao reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 RXFP2 Zornitza Stark gene: RXFP2 was added
gene: RXFP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RXFP2 was set to Unknown