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| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Classified gene: KANSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Added comment: Comment on list classification: New gene added by Andžela Lazdāne (Children's Clinical University Hospital of Latvia). This gene is assiociated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.45 | KANSL1 | Ivone Leong Gene: kansl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.44 | KANSL1 | Ivone Leong Added comment: Comment on publications: PMID: 26306646. Additional 12 cases with de novo variants in KANSL1 causing disease, which further indicates that haploinsufficiency for KANSL1 is sufficient to cause the core phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.44 | KANSL1 | Ivone Leong Publications for gene: KANSL1 were set to 22544363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.43 | KANSL1 | Ivone Leong Publications for gene: KANSL1 were set to PMID: 22544363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.42 | KANSL1 | Ivone Leong Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability to Koolen-De Vries syndrome, OMIM:610443; Facial features; Delayed psychomotor development; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.35 | KANSL1 |
Andžela Lazdāne gene: KANSL1 was added gene: KANSL1 was added to IUGR and IGF abnormalities. Sources: Expert list,Literature Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to PMID: 22544363 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome; Facial features; Delayed psychomotor development; Intellectual disability Penetrance for gene: KANSL1 were set to Complete Review for gene: KANSL1 was set to GREEN Added comment: Region: ISCA-37420-Loss wich is in IUGR and IGF abnormalities panel includes KANSL1 gene. Based on the literature de novo heterozygous truncating mutations in the KANSL1 gene causes symptoms like characteristic facial features, including broad forehead, long face, developmental delay, cleft lip/palate and tubular nose with bulbous nasal tip may manifest also in IUGR. Sources: Expert list, Literature |
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