| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mosaic skin disorders - deep sequencing v2.31 | TP63 |
Arina Puzriakova Tag watchlist tag was added to gene: TP63. Tag somatic tag was added to gene: TP63. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.31 | TP63 | Arina Puzriakova Classified gene: TP63 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.31 | TP63 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). This gene is associated with a number of phenotypes, some of which lead to dermatologic abnormalities. Mosaicism is not common - there is only one paper confirming somatic mosaicism in one individual (PMID: 18792980), plus another case mentioned by Tom Cullup from Kinsler lab. There is also a report of suspected mosaicism (but not confirmed) in a patient due to the Blaschko distributions of hypopigmented patches on their skin and hair loss (PMID: 34703865). The phenotype fits the scope and this is likely the only panel to pick up somatic cases. However, the evidence supporting somatic mosaicism is borderline. Only one case has been published since 2008, and at least one additional confirmed case is needed to corroborate the association. Leaving rating as Amber with watchlist tag to monitor for additional evidence. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.31 | TP63 | Arina Puzriakova Gene: tp63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | TP63 |
Tom Cullup gene: TP63 was added gene: TP63 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to 18792980 Phenotypes for gene: TP63 were set to Split hand foot malformation with whorl-like pigmentary pattern Penetrance for gene: TP63 were set to unknown Review for gene: TP63 was set to GREEN Added comment: Lots of evidence to support germline variation causing disease - 2x cases now identified as somatic mosaic with pigmentary anomalies (1x in literature, 1 x Kinsler lab). Gene can be rated green based on germline occurrences, and important to be able to detect somatic mosaics as a differential in cases of Blaschkolinear pigmentary anomalies. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||