| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.2582 | BRCC3 | Zornitza Stark Marked gene: BRCC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2582 | BRCC3 | Zornitza Stark Gene: brcc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2582 | BRCC3 | Zornitza Stark Classified gene: BRCC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2582 | BRCC3 | Zornitza Stark Gene: brcc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2581 | BRCC3 | Zornitza Stark Tag SV/CNV tag was added to gene: BRCC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | BRCC3 |
Sangavi Sivagnanasundram gene: BRCC3 was added gene: BRCC3 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BRCC3 were set to 21596366; 33868155; 35815106; 39552268 Phenotypes for gene: BRCC3 were set to MoyaMoya Disease, syndromic, MONDO:0016820 Review for gene: BRCC3 was set to AMBER Added comment: The same common ~26kb Xq28 deletion was identified in all affected individuals below. No other evidence of any SNVs. Additional probands with MoyaMoya: PMID: 35815106 & 39552268 Two unrelated individuals with MoyaMoya and other neurodevelopmental features. A hemizygous ~26kb Xq28 deletion was identified in both individuals ------------------------------ Review from CVM panel: “PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected. PMID 33868155, additional report of affected male, with similar deletion. No reports of SNVs identified, including in ClinVar.” Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||