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| Laterality disorders and isomerism v1.47 | FOXJ1 | Ivone Leong Tag for-review was removed from gene: FOXJ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.47 | FOXJ1 | Ivone Leong commented on gene: FOXJ1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.46 | FOXJ1 |
Ivone Leong Source Expert Review Green was added to FOXJ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v1.19 | FOXJ1 |
Zornitza Stark changed review comment from: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients. Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity Sources: Expert list; to: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients. Electron microscopy demonstrated cilia were unable to generate fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity Sources: Expert list |
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| Laterality disorders and isomerism v1.18 | FOXJ1 | Ivone Leong Classified gene: FOXJ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.18 | FOXJ1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There are enough cases to support a gene-disease association. There are also several animal models (PMID: 9739041, 15504371) that show that this gene has a role in L-R body assymmetry determination during early embryogenesis. This gene will be upgraded to Green status at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.18 | FOXJ1 | Ivone Leong Gene: foxj1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.17 | FOXJ1 | Ivone Leong Tag for-review tag was added to gene: FOXJ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.17 | FOXJ1 | Ivone Leong Publications for gene: FOXJ1 were set to 31630787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | FOXJ1 |
Zornitza Stark gene: FOXJ1 was added gene: FOXJ1 was added to Laterality disorders and isomerism. Sources: Expert list Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry Review for gene: FOXJ1 was set to GREEN gene: FOXJ1 was marked as current diagnostic Added comment: PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients. Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicity Sources: Expert list |
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