ZNF699 Gene Curation
- Katherine Lafferty
Analytics
Gene-disease assertions not curated here (add link or write note):
Disease | DEGCAGS syndrome |
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Inheritance | Autosomal recessive |
Prevalence |
Source: Rare- only a handful of case reports, first described in 2021 (PMID: 33875846) |
Rapid or full curation? | Rapid Full |
GenCC: Invitae (Strong), Ambry (Moderate) | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: PMID: 33875846- 5 homozygous pLoF across 12 families (all consanguineous) - (10 pts)* PMID: 35205213- Biallelic nonsense variant in trans in one affected proband - (4 pts)*
*using full strength of rare phenotype. While NDD is non-specific, this cohort seems to have to some additional specific syndromic features. If being conservative and consider this phenotype non-specific, the case points total only be 7. Either way it would get to at least moderate. Segregation Evidence: Case/Control Evidence: Experimental Evidence: Source: |
Clinical Validity Points Total |
Source: |
Clinical Validity Classification Definitive (12pts) Strong (12pts) Moderate (7-11pts) Limited (0.1-6pts) No genetic evidence Refuted Disputed | Moderate or Definitive depending on if the phenotype is considered specific enough. Source: |
Molecular Mechanism Loss of function Gain of function Dominant negative Unknown Other | Loss of function likely based on variants reported.
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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) |
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Severity |
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Clinical Features |
Sources: |
HPO Terms |
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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 |
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Case ID, Curator name, Date, Jira ticket link |
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