Pigmentary skin disorders

Gene: ASIP

Red List (low evidence)

ASIP (agouti signaling protein)
EnsemblGeneIds (GRCh38): ENSG00000101440
EnsemblGeneIds (GRCh37): ENSG00000101440
OMIM: 600201, Gene2Phenotype
ASIP 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: ASIP; 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, 11:31 a.m.

Details

Sources
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
OMIM
600201
Clinvar variants
Variants in ASIP
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 ASIP.

31 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ASIP was added gene: ASIP was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ASIP was set to Phenotypes for gene: ASIP were set to Pigmentation, susceptibility to facial pigmented spots