Mosaic skin disorders - deep sequencing
Gene: EPHB4Comment 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.Created: 26 Jul 2023, 10:12 a.m. | Last Modified: 26 Jul 2023, 10:12 a.m.
Panel Version: 2.8
EPHB4 variants are associated with capillary malformation-arteriovenous malformation syndrome (CM-AVM) which could possibly be referred via this panel. However, most cases are caused by germline variants and only a single individual has been documented in 2019 with a mosaic EPHB4 variant at 19-25% across multiple sample types (PMID: 30760892). The patient had epistaxis and diffuse telangiectases which were individual in places, but in “patches” on many areas of the skin. Interestingly, this case was the most severely affected in the series.Created: 26 Jul 2023, 10:06 a.m. | Last Modified: 26 Jul 2023, 10:06 a.m.
Panel Version: 2.5
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 listCreated: 5 May 2023, 2:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation 2 (MIM 618196); Lymphatic malformation 7 (MIM 617300)
Publications
Tag watchlist tag was added to gene: EPHB4.
Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Publications for gene: EPHB4 were set to PMID: 30760892
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
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