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| Usher Syndrome v0.27 | PDZD7 | Zornitza Stark Marked gene: PDZD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.27 | PDZD7 | Zornitza Stark Gene: pdzd7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.27 | PDZD7 | Zornitza Stark Publications for gene: PDZD7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.26 | PDZD7 | Zornitza Stark Classified gene: PDZD7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.26 | PDZD7 | Zornitza Stark Gene: pdzd7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.25 | PDZD7 |
Zornitza Stark changed review comment from: Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen.; to: Association with deafness: Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen. Association with Usher syndrome: only reported in conjunction with other Usher syndrome variants, digenic inheritance model proposed, PMID: 20440071 |
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| Usher Syndrome v0.25 | PDZD7 | Zornitza Stark edited their review of gene: PDZD7: Changed rating: AMBER; Changed publications: 20440071, 19028668, 26416264, 26849169, 27068579, 26445815, 28173822, 24334608; Changed phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472, Deafness, autosomal recessive 57, MIM# 618003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Usher Syndrome v0.0 | PDZD7 |
Bryony Thompson gene: PDZD7 was added gene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 |
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