| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.0 | TPTE2 | Gene migrated from ENSG00000132958 to ENSG00000132958 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5011 | TPTE2 | Bryony Thompson Marked gene: TPTE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5011 | TPTE2 | Bryony Thompson Gene: tpte2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5011 | TPTE2 |
Bryony Thompson gene: TPTE2 was added gene: TPTE2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TPTE2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPTE2 were set to 37056996; 34089056 Phenotypes for gene: TPTE2 were set to Infertility disorder, MONDO:0005047; Neurodevelopmental disorder, MONDO:0700092 Review for gene: TPTE2 was set to RED Added comment: PMID 34089056 reports 1 individual from 1 family with biallelic loss‑of‑function TPTE2 variants causing severe sperm motility disorder (infertility), while PMID 37056996 reports individuals with de novo heterozygous TPTE2 variants in cases with a neurodevelopmental disorder characterised by speech delay, intellectual disability, motor delay and joint hypermobility. 1 stopgain, 1 UTR, 2 missense - R407W present in 12 cases, which is present in the South Asian population in gnomAD v4 at AF of 0.1325%. Other missense R400I is present in 2 individuals in the other population. Only the stopgain is absent from gnomAD. No other supporting evidence Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11493 | TPTE2P5 | Zornitza Stark Marked gene: TPTE2P5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11493 | TPTE2P5 | Zornitza Stark Gene: tpte2p5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11493 | TPTE2P5 | Zornitza Stark Classified gene: TPTE2P5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11493 | TPTE2P5 | Zornitza Stark Gene: tpte2p5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11483 | TPTE2P5 | Michelle Torres reviewed gene: TPTE2P5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TPTE2P5 |
Zornitza Stark gene: TPTE2P5 was added gene: TPTE2P5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TPTE2P5 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||