| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.136 | LRP2 | Zornitza Stark Marked gene: LRP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.136 | LRP2 | Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.136 | LRP2 | Chirag Patel Classified gene: LRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.136 | LRP2 | Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.135 | LRP2 | Chirag Patel Classified gene: LRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.135 | LRP2 | Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.135 | LRP2 | Chirag Patel Classified gene: LRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.135 | LRP2 | Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.134 | LRP2 |
Chirag Patel gene: LRP2 was added gene: LRP2 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to PMID: 17632512 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448 Review for gene: LRP2 was set to GREEN Added comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness. Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. Sources: Expert list |
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