Inheritance

Autosomal recessive / autosomal dominant / X-linked

Prevalence

Source:

Rapid or full curation?

ClinGen / GenCC / BabySeq / HGMD / OMIM

Clinical Validity Scoring Notes and points

Variant/Case Evidence:

Segregation Evidence:

Case/Control Evidence:

Experimental Evidence:

Source:

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

CURATION FOR THE TG[11]T5 https://docs.google.com/document/d/1drRJf4CcMNOsrvyVutaPx9LNCVXXEim1A9FjXoebAnw/edit Located in intron 8.

Note that TG[11]T[5] in cis with Arg117His is a 3 star pathogenic variant in ClinVar (variant ID 209047) NCBI - WWW Error Blocked Diagnostic

You will likely need to review variants in IGV to determine the number of TGs and the number of Ts.

Nomenclature:

• TG[11]T[5] will be called as c.1210-7_1210-6del (see case 47230812301141)

• Likely the 12TG or 13TG variants will be called in the vcf as c.1210-34_1210-33dup (for 12TG) and c.1210-34_1210-31dup (13TG).

  • If they are TG[12]T[5} or TG[13]T[5], c.1210-7_1210-6del should also be present.

Curation Summary

Case ID, Curator name, Date, Jira ticket link

Andrea Oza 04/05/24

• 47230812301141