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| Pituitary hormone deficiency v0.58 | PROKR2 | Zornitza Stark Marked gene: PROKR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.58 | PROKR2 | Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.58 | PROKR2 | Chirag Patel Mode of inheritance for gene PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.57 | PROKR2 |
Chirag Patel commented on gene: PROKR2: While OMIM refers to this as AD disease, hom and c.het patients are regularly reported Het. patients have been reported as asymptomatic carriers (OMIM) Loss of function - transfected HEK293 cells showed a reduction in signalling and maximal responses (PMID:18826963). Dominant negative - coexpression of a mutant missense with wildtype protein resulted in reduced signalling compared to wildtype alone (PMID:29161432). |
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| Pituitary hormone deficiency v0.57 | PROKR2 | Chirag Patel reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22319038, 25678757, 25759380, 18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia (244200); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.57 | PROKR2 | Chirag Patel Publications for gene PROKR2 were changed from 22319038; 25678757; 25759380; 18826963; 29161432 to 22319038; 25678757; 25759380; 18826963; 29161432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.0 | PROKR2 |
Seb Lunke gene: PROKR2 was added gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PROKR2 were set to 22319038; 25678757; 25759380 Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200) |
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