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| Mosaic skin disorders - deep sequencing v2.8 | EPHB4 | Arina Puzriakova Tag watchlist tag was added to gene: EPHB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.8 | EPHB4 | Arina Puzriakova Classified gene: EPHB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.8 | EPHB4 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber for now as only a single case with mosaicism has been reported to date. The patients phenotype was comparable to germline cases but another independent report or functional studies of the variant would help corroborate this association before classifying as diagnostic-grade. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.8 | EPHB4 | Arina Puzriakova Gene: ephb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.7 | EPHB4 | Arina Puzriakova Publications for gene: EPHB4 were set to PMID: 30760892 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.6 | EPHB4 | Arina Puzriakova Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2 (MIM 618196); Lymphatic malformation 7 (MIM 617300) to Capillary malformation-arteriovenous malformation 2, OMIM:618196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.5 | EPHB4 | Arina Puzriakova commented on gene: EPHB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | EPHB4 |
Tom Cullup gene: EPHB4 was added gene: EPHB4 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHB4 were set to PMID: 30760892 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2 (MIM 618196); Lymphatic malformation 7 (MIM 617300) Penetrance for gene: EPHB4 were set to unknown Review for gene: EPHB4 was set to GREEN Added comment: EPHB4 well documented as disease-associated gene; only a single mosaic case so far reported in the literature (PMID: 30760892), but considered likely to be underestimate by Prof Kinsler's team. Important differential for RASA1-like presentation (CM-AVM). Sources: Expert list |
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