| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Dominant v0.16 | CA4 | Zornitza Stark Marked gene: CA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.16 | CA4 | Zornitza Stark Gene: ca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.16 | CA4 | Zornitza Stark Publications for gene: CA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.15 | CA4 | Zornitza Stark Tag disputed tag was added to gene: CA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.15 | CA4 | Zornitza Stark Classified gene: CA4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.15 | CA4 | Zornitza Stark Gene: ca4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.14 | CA4 |
Zornitza Stark changed review comment from: PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad. PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad. PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad. Mouse model does not have an eye phenotype.; to: PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad. PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad. PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad. Mouse model does not have an eye phenotype. In the absence of other supporting data, the relatively high frequency of the reported variants raises significant concerns about the validity of this gene-disease relationship. |
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| Retinitis pigmentosa_Autosomal Dominant v0.14 | CA4 | Zornitza Stark reviewed gene: CA4: Rating: RED; Mode of pathogenicity: None; Publications: 15563508, 15090652, 17652713, 16260723; Phenotypes: Retinitis pigmentosa 17, MIM# 600852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.0 | CA4 |
Bryony Thompson gene: CA4 was added gene: CA4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852 |
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