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| Mendeliome v1.4356 | INSL3 | Zornitza Stark Phenotypes for gene: INSL3 were changed from Cryptorchidism, MIM# 219050 to Cryptorchidism, MIM# 219050; Infertility disorder MONDO:0005047, INSL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4355 | INSL3 | Zornitza Stark Publications for gene: INSL3 were set to 12601553; 12970298; 11095425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4354 | INSL3 | Zornitza Stark Mode of inheritance for gene: INSL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4353 | INSL3 | Zornitza Stark Classified gene: INSL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4353 | INSL3 | Zornitza Stark Gene: insl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4352 | INSL3 | Zornitza Stark changed review comment from: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.; to: Initial association reported for mono-allelic variants: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4352 | INSL3 | Zornitza Stark edited their review of gene: INSL3: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4352 | INSL3 | Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 33095795 reports a single individual with a homozygous missense variant c.52G>A p.V18M. Mouse knock‑out studies showed disrupted female cycles and reduced litter size; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861, 33095795; Changed phenotypes: Cryptorchidism, MIM# 219050, Infertility disorder MONDO:0005047, INSL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4352 | INSL3 | Zornitza Stark edited their review of gene: INSL3: Added comment: PMID 37208861 reports a single individual with a homozygous frameshift loss‑of‑function variant c.143dupG (p.Arg50Profs*16) presenting with bilateral cryptorchidism diagnosed at birth, early orchidopexy, severe male infertility (non‑obstructive azoospermia, Sertoli‑cell‑only phenotype) and additional features (hypertonia, severe hearing loss, red‑green visual impairment). Functional impact demonstrated by absent INSL3 immunostaining in Leydig cells and undetectable serum INSL3 levels. Additional phenotypic features unlikely explained by INSL3 variant.; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.2771 | 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 v0.3400 | INSL3 | Zornitza Stark Marked gene: INSL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3400 | INSL3 | Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3400 | INSL3 | Zornitza Stark Phenotypes for gene: INSL3 were changed from to Cryptorchidism, MIM# 219050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3399 | INSL3 | Zornitza Stark Publications for gene: INSL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3398 | INSL3 | Zornitza Stark Mode of inheritance for gene: INSL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3397 | INSL3 | Zornitza Stark Classified gene: INSL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3397 | INSL3 | Zornitza Stark Gene: insl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3396 | INSL3 | Zornitza Stark reviewed gene: INSL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 12601553, 12970298, 11095425; Phenotypes: Cryptorchidism, MIM# 219050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | INSL3 |
Zornitza Stark gene: INSL3 was added gene: INSL3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INSL3 was set to Unknown |
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