Inheritance

Autosomal recessive / autosomal dominant / X-linked

Prevalence

Source:

Rapid or full curation?

ClinGen / GenCC / BabySeq / HGMD / OMIM

Clinical Validity Scoring Notes and points

Congenital heart disease:

Li 2018 PMID: 30322850 - Per supp1 - there are 4 variants identified in probands with congenital heart defects. Variants found via exome sequencing, but unclear whether they were inherited or de novo, or parents tested at all. (1) c.G711C p.Q237H - absent gnomad, REVEL score 0.165, in patient with PDA. (2) c.T811G p.W271G - absent gnomAD, REVEL score 0.643 proband with VSD, ASD, PDA. (3) c.933_934 ins AA p.T312K fs*55 - NMD+ truncating variant, absent gnomAD, in proband with ASD and pulmonary stenosis. (4) c.A1558C p.S520R - absent gnomAD, REVEL 0.213. There was some functional evidence, but I didn’t take the time to score these variants; congenital heart defects are too common to score any of these variants with points.

TAN 2022 PMID: 35910219 - c.813G > A (p.Trp271*) - Absent gnomAD, NMD+ truncation. Found het in case 20B10556859; I don’t see where the patient phenotype is described in any specifics (including the supplement) except that this is a congenital heart disease cohort.

LIMITED - NO POINTS

Clinical Validity Points Total

Source:

Clinical Validity Classification

Source:

Molecular Mechanism

Loss of function / Gain of function / Dominant Negative

Penetrance

(list source/PMID)

Source:

Age of Onset

(list source/PMID)

Severity

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

Case ID, Curator name, Date, Jira ticket link