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| Vascular Malformations_Germline v1.4 | ARL6IP6 | Bryony Thompson Marked gene: ARL6IP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v1.4 | ARL6IP6 | Bryony Thompson Gene: arl6ip6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v1.4 | ARL6IP6 |
Bryony Thompson gene: ARL6IP6 was added gene: ARL6IP6 was added to Vascular Malformations_Germline. Sources: Other Mode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP6 were set to 31142202 Phenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita Review for gene: ARL6IP6 was set to RED Added comment: A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter). Sources: Other |
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