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| 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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| Mosaic skin disorders - deep sequencing v0.16 | RASA1 | Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24038909, 30635911; Phenotypes: Capillary malformation-arteriovenous malformation syndrome (608354); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | RASA1 | Catherine Snow Publications for gene RASA1 were changed from to 24038909; 30635911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.7 | RASA1 | Rebecca Foulger Source London North GLH was added to RASA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | RASA1 | Rebecca Foulger reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome |
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