Vascular skin disorders
Gene: AGGF1EnsemblGeneIds (GRCh38): ENSG00000164252
EnsemblGeneIds (GRCh37): ENSG00000164252
OMIM: 608464, Gene2Phenotype
AGGF1 is in 1 panel
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AGGF1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Susceptibility to Klippel-Trenaunay-Weber syndrome
- OMIM
- 608464
- Clinvar variants
- Variants in AGGF1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to AGGF1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: AGGF1 was added gene: AGGF1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: AGGF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AGGF1 were set to Susceptibility to Klippel-Trenaunay-Weber syndrome