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XRCC5 Gene Curation

XRCC5 Gene Curation

Owned by Andrea Oza
2023-06-21

Gene-disease assertions not curated here (add link or write note): congenital heart disease, autism, limb abnormalities, developmental disorder, bladder cancer risk

Disease

N/A, no genetic evidence

Disease

N/A, no genetic evidence

Inheritance

Autosomal recessive

Prevalence

Orphanet

Medline Plus Genetics

 N/A

Rapid or full curation?

Rapid
Full

ClinGen / GenCC / BabySeq / HGMD

 

Clinical Validity Scoring Notes and points

No entries in ClinVar or GenCC. HGMD has 6 entries, but they are all DM?, DFP, or FP. The reported phenotypes are congenital heart disease, autism, limb abnormalities, developmental disorder, bladder cancer risk and reduced expression.

Clinical Validity Points Total

 N/A

Clinical Validity Classification

Definitive (12pts)

Strong (12pts)

Moderate (7-11pts)

Limited (0.1-6pts)

No genetic evidence

Refuted

Disputed

 N/A

Molecular Mechanism

Loss of function

Gain of function

Dominant negative

Unknown

Other

 N/A

Penetrance

Complete (100%)

High (≥90%)

Reduced  (<90% and >10%)

Low (≤10%)

(list source/PMID)

 N/A

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.

 N/A

Clinical Features

 N/A

Gene SOPs & Notes

 N/A

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-dsiease relationship is limited

N/A

Case ID, Curator name, Date, Jira ticket link

Andrea Oza, 06/14/2023 https://broadinstitute.atlassian.net/browse/CIT-127