Activity
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9 actions
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| Severe microcephaly v2.293 | OSGEP | Eleanor Williams Tag Q3_21_rating was removed from gene: OSGEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | OSGEP | Sarah Leigh commented on gene: OSGEP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | OSGEP |
Eleanor Williams Source Expert Review Green was added to OSGEP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.228 | OSGEP | Ivone Leong Tag Q3_21_rating tag was added to gene: OSGEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.228 | OSGEP | Ivone Leong Classified gene: OSGEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.228 | OSGEP | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.228 | OSGEP | Ivone Leong Gene: osgep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.227 | OSGEP | Ivone Leong Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, MIM# 617729 to Galloway-Mowat syndrome 3, OMIM:617729 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | OSGEP |
Zornitza Stark gene: OSGEP was added gene: OSGEP was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828; 28272532 Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729 Review for gene: OSGEP was set to GREEN gene: OSGEP was marked as current diagnostic Added comment: Early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Over 25 families reported. Sources: Expert list |
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