Vascular skin disorders

Gene: AGGF1

Red List (low evidence)

AGGF1 (angiogenic factor with G-patch and FHA domains 1)
EnsemblGeneIds (GRCh38): ENSG00000164252
EnsemblGeneIds (GRCh37): ENSG00000164252
OMIM: 608464, Gene2Phenotype
AGGF1 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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
Phenotypes
  • Susceptibility to Klippel-Trenaunay-Weber syndrome
OMIM
608464
Clinvar variants
Variants in AGGF1
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to AGGF1.

31 Jan 2019, Gel status: 1

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