Activity
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12 actions
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| Severe microcephaly v2.300 | FBRSL1 | Eleanor Williams Tag gene-checked tag was added to gene: FBRSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | FBRSL1 | Eleanor Williams Tag for-review was removed from gene: FBRSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | FBRSL1 | Sarah Leigh commented on gene: FBRSL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.281 | FBRSL1 |
Eleanor Williams Source Expert Review Green was added to FBRSL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.78 | FBRSL1 | Arina Puzriakova Phenotypes for gene: FBRSL1 were changed from to Intellectual disability; Microcephaly; Heart defect; Cleft palate; Contractures; Hearing impairment; Skin creases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.77 | FBRSL1 | Arina Puzriakova Publications for gene: FBRSL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.76 | FBRSL1 | Arina Puzriakova edited their review of gene: FBRSL1: Changed publications: 32424618; Changed phenotypes: Intellectual disability, Microcephaly, Heart defect, Cleft palate, Contractures, Hearing impairment, Skin creases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.76 | FBRSL1 | Arina Puzriakova Tag for-review tag was added to gene: FBRSL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.76 | FBRSL1 | Arina Puzriakova Classified gene: FBRSL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.76 | FBRSL1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with distinct variants and relevant phenotype, supported by functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.76 | FBRSL1 | Arina Puzriakova Gene: fbrsl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.75 | FBRSL1 |
Arina Puzriakova gene: FBRSL1 was added gene: FBRSL1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: FBRSL1 was set to GREEN Added comment: Currently not associated with any phenotype in OMIM or Gene2Phenotype. - PMID: 32424618 (2020): Three different de novo truncating variants identified by WES in three unrelated individuals with a congenital malformation syndrome. Clinical characteristics include respiratory insufficiency, postnatal growth restriction, microcephaly, ID/GDD and other malformations. 2/3 had heart defects, cleft palate and hearing impairment. Knockdown of Fbrsl1 in Xenopus laevis embryos resulted in disturbance in the outgrowth of cranial nerves and motor neurons, and craniofacial abnormalities which were rescued with the short N-terminal isoform but not with the isoform bearing one of the human variants. Sources: Literature |
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