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RPL31 Gene Curation

RPL31 Gene Curation

Owned by Kelley Paris
2025-01-17
2 min read

Gene-disease assertions not curated here (add link or write note):

Disease

Diamond-Blackfan anemia

Disease

Diamond-Blackfan anemia

Inheritance

Autosomal dominant

Prevalence

Orphanet

Medline Plus Genetics

 5 to 7 per million

Source: Medline Plus Genetics

Rapid or full curation?

Rapid
Full

ClinGen / GenCC / BabySeq / HGMD / OMIM

No published ClinGen curations

No published classifications in GenCC

Clinical Validity Scoring Notes and points

Variant/Case Evidence:

PMID: 25042156

  • Infant with Diamond-Blackfan anemia had a deletion on chromosome 2 encompassing RPL31

  • Studying human CD34+ hematopoietic progenitors demonstrated that RPL31 is required for steps in the maturation of 60S ribosomal subunits in patient cells and that decreased expression of RPL31 in human CD34+ hematopoietic progenitors interferes with erythroid differentiation

  • 0.5 + 0.5 (functional data) = 1 pt

 

Segregation Evidence:

Case/Control Evidence:

Experimental Evidence:

Source:

Clinical Validity Points Total

1

Source:

Clinical Validity Classification

Definitive (12pts)

Strong (12pts)

Moderate (7-11pts)

Limited (0.1-6pts)

No genetic evidence

Refuted

Disputed

Limited

Source:

Molecular Mechanism

Loss of function

Gain of function

Dominant negative

Unknown

Other

Loss of function / Gain of function / Dominant Negative

 

Penetrance

Complete (100%)

High (≥80%)

Moderate  (<80% and >20%)

Low (≤20%)

(list source/PMID)

 

Source:

Age of Onset

Congenital

Pediatric

Adolescent

Adulthood

Late adulthood

(list source/PMID)

 

Severity

Embryonic lethal - presence of a pathogenic variant or variants is not compatible with life. The penetrance must be complete.
Severe - presence of a pathogenic variant or variant(s) results in significantly reduced fitness. The penetrance must be complete or high.
Moderate - significant morbidity or mortality due to clinical features, but fitness may not be reduced, or penetrance is reduced.
Mild - Presence of a variant or variant(s) is not associated with reduced fitness, no significant morbidity or mortality, and/or penetrance is low.
None - presence of a variant results in no phenotype. An example is recessive disorders in which no phenotype is reported in carriers.

 

Clinical Features

 

Sources:

HPO Terms

https://hpo.jax.org/app/

 

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 @GENE@ is associated with @inheritance pattern@ @condition@, which is characterized by @clinical features@ (PMIDs).

- Variable expression or severity:
The severity and expressivity of the disorder is highly variable, even within families.
- If multiple conditions associated with the gene:
It has also been associated with @inheritance pattern@ @condition@, which is characterized by @clinical features@ (PMIDs).

- Limited evidence gene: The PCNA gene has been reported in individuals with early onset autosomal recessive ataxia (PMID: 33426167, 24911150), however, evidence supporting this gene-dIsease relationship is limited

 

Case ID, Curator name, Date, Jira ticket link

 

 

 

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