| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.173 | POC5 | Zornitza Stark Marked gene: POC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.173 | POC5 | Zornitza Stark Gene: poc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.173 | POC5 | Zornitza Stark Classified gene: POC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.173 | POC5 | Zornitza Stark Gene: poc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.172 | POC5 |
Zornitza Stark gene: POC5 was added gene: POC5 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 40590205; 29272404 Phenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related Review for gene: POC5 was set to GREEN Added comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP. Sources: Literature |
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.55 | Bryony Thompson removed gene:POC5 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | POC5 | Bryony Thompson Marked gene: POC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | POC5 | Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | POC5 | Bryony Thompson Classified gene: POC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.18 | POC5 | Bryony Thompson Gene: poc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.17 | POC5 |
Bryony Thompson gene: POC5 was added gene: POC5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 29272404 Phenotypes for gene: POC5 were set to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis Review for gene: POC5 was set to AMBER Added comment: One case with a homozygous truncating variant and a supporting zebrafish model. Sources: Expert list |
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