Information on AGS4

Basic details

Name: Aicardi-Goutieres syndrome 4 | Acronym: AGS4
Alt. names:

Gene: RNASEH2A | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2006

Last updated on: 2023-02-28 16:41:18 by

OMIM: 610333

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. Refs. PMIDs: 16845400; 17846997; 20301648

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.