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  3. RASA1
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Monogenic hearing loss

Gene: RASA1

Red List (low evidence)
RASA1 (RAS p21 protein activator 1)
EnsemblGeneIds (GRCh38): ENSG00000145715
EnsemblGeneIds (GRCh37): ENSG00000145715
OMIM: 139150, Gene2Phenotype
RASA1 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#605462:Basal cell carcinoma, somatic[<omim version=1.0><clinicalSynopsisList>]; #608354:Capillary malformation-arteriovenous malformation[Arteriovenous malformationArteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung); Capillary malformations, commonly on face or neck, rarely on mucosaMaculae can be a few millimeters to several centimeters in diameter and can be surrounded by pale halo with punctate red spot in middleMaculae are homogeneous or telangiectatic and may vary in color from pale pink to red, purple or brown]; #608355:Parkes Weber syndrome[<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 9 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RASA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert