DHX38 Gene Curation
- Grant Fischer (Deactivated)
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | Retinitis pigmentosa 84 |
|---|---|
Inheritance | Autosomal recessive |
Prevalence | Cumulative retinitis pigmentosa prevalence: 1-5/10,000 Source: Orphanet |
Rapid or full curation? | Rapid Full |
ClinGen - none, GenCC - strong by Invitae, BabySeq - none. HGMD with 2 reported variants described below. | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: 1 proband from family with 4 affected sibs with G332D missense variant so rest used for segregation evidence below (PMID: 24737827): 0.1 point 2 probands from 2 families with R324Q missense variant with rest of families used for segregation evidence below (PMID: 30208423): 0.2 points Segregation Evidence: 3 affected segs and 2 unaffected segs for family with G332D missense variant (PMID: 24737827): 1 point 8 affected segs and 4 unaffected segs for family with R324Q missense variant (PMID: 30208423): 3 points Case/Control Evidence: The G332D variant was not identified in any of 180 ethnically matched control individuals, nor in 7540 Africans or Caucasians and an in-house database that contained the exome data of 400 individuals (PMID: 24737827): 6 points Experimental Evidence: N/A |
Clinical Validity Points Total | 10.3 points |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | Moderate |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Unknown; only missense variants described in HGMD
|
Penetrance Complete (100%) High (≥80%) Moderate (<80% and >20%) Low (≤20%) (list source/PMID) | Complete based on reported studies |
Age of Onset Congenital Pediatric Adolescent Adulthood Late adulthood (list source/PMID) | Pediatric based on reported studies
|
Severity | Moderate - significant clinical morbidity but patients survive into adulthood
|
Clinical Features | autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 |
HPO Terms | Visual impairment |
Gene SOPs & Notes | LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant |
Curation Summary | The DHX38 is moderately associated with autosomal recessive retinitis pigmentosa 84, which is characterized by early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 (PMIDs: 24737827, 30208423). |
Case ID, Curator name, Date, Jira ticket link | Grant Fischer - 12/13/2024 |