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| 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 |
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| Mendeliome v1.2239 | TCP1 | Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2238 | TCP1 | Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Marked gene: TCP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Marked gene: TCP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Classified gene: TCP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2192 | TCP1 | Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2191 | TCP1 |
Ain Roesley gene: TCP1 was added gene: TCP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCP1 were set to 39480921 Phenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related Penetrance for gene: TCP1 were set to Complete Review for gene: TCP1 was set to GREEN gene: TCP1 was marked as current diagnostic Added comment: previously known as CCT1 8x individuals including 5x de novo 6x PTCs + 2x missense 6/8 DD/ID 2/8 visual impairment 6/8 seizures 6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities Sources: Literature |
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