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| Severe microcephaly v4.67 | BRD4 | Arina Puzriakova Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, OMIM:620568 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.266 | BRD4 | Ivone Leong Phenotypes for gene: BRD4 were changed from Cornelia de Lange-like syndrome to Cornelia de Lange-like syndrome, MONDO:0016033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.265 | BRD4 | Ivone Leong Classified gene: BRD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.265 | BRD4 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (probable) but not OMIM. Based on the available evidence this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.265 | BRD4 | Ivone Leong Gene: brd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.264 | BRD4 | Ivone Leong Tag watchlist tag was added to gene: BRD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | BRD4 |
Zornitza Stark gene: BRD4 was added gene: BRD4 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRD4 were set to 29379197; 30302754 Phenotypes for gene: BRD4 were set to Cornelia de Lange-like syndrome Review for gene: BRD4 was set to AMBER Added comment: A mixture of evidence from SNVs and CNVs. Note the CNVs are large and only some individuals have documented OFC < -3SD. PMID: 29379197; - 4x patients reports however only 3 reported with occipitofrontal circumference of < -3 SD - 1x microdeletion of 1.04Mb, 1x missense and 1x fs. All de novo PMID: 30302754 - 1x proband with occipitofrontal circumference 28 cm (−2 SD) - de novo interstitial deletion involving the short arm of a chromosome 19, 1.97 Mb in size, which included BRD4 Sources: Expert list |
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