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| Optic neuropathy v3.8 | SSBP1 | Achchuthan Shanmugasundram Classified gene: SSBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.8 | SSBP1 | Achchuthan Shanmugasundram Gene: ssbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | SSBP1 | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | SSBP1 | Achchuthan Shanmugasundram commented on gene: SSBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | SSBP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to SSBP1. Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Optic neuropathy v2.56 | SSBP1 | Sarah Leigh changed review comment from: The moi for this gene could be changed to BOTH monoallelic and biallelic as PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants.; to: The moi for this gene should be changed to BOTH monoallelic and Biallelic as PMID: 34905022 & 3155024 report two cases of SSBP1-disease associated with biallelic SSBP1 variants. The variant c.380G>A p.(Arg127Gln)(MAF of 0.00004) was found with c.394A>G p.(Ile132Val)(PMID: 34905022), which had previously been found as a homozygote in a single case (PMID: 31550240). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.56 | SSBP1 | Sarah Leigh reviewed gene: SSBP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.56 | SSBP1 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.56 | SSBP1 | Sarah Leigh Phenotypes for gene: SSBP1 were changed from Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Autosomal dominant optic atrophy with variable retinal degeneration; Optic atrophy with retinal degeneration (+-systemic features) to Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.55 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.32 | SSBP1 | Ivone Leong Phenotypes for gene: SSBP1 were changed from Autosomal dominant optic atrophy with variable retinal degeneration to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Autosomal dominant optic atrophy with variable retinal degeneration; Optic atrophy with retinal degeneration (+-systemic features) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.31 | SSBP1 | Ivone Leong Publications for gene: SSBP1 were set to 31298765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.29 | SSBP1 | Neringa Jurkute reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31298765, PMID: 31550240, PMID: 31550237, PMID: 30412255; Phenotypes: Optic atrophy with retinal degeneration (+-systemic features); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.116 | SSBP1 | Ivone Leong Publications for gene: SSBP1 were set to PMID: 31298765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.115 | SSBP1 | Anna de Burca Classified gene: SSBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.115 | SSBP1 | Anna de Burca Gene: ssbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.114 | SSBP1 | Anna de Burca reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31298765; Phenotypes: Autosomal dominant optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.114 | SSBP1 |
Tom Cullup changed review comment from: Sources: Expert list; to: Sources: Expert list Variants identified to date are missense and putative mode of action is dominant-negative, therefore there is potential for exception to loss-of-function rule, but insufficient data to clearly demonstrate at the moment. There are lower than expected LoF variants in gnomAD, so cannot rule out pathogenic LoF variants. |
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| Optic neuropathy v1.114 | SSBP1 |
Tom Cullup gene: SSBP1 was added gene: SSBP1 was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SSBP1 were set to PMID: 31298765 Phenotypes for gene: SSBP1 were set to Autosomal dominant optic atrophy with variable retinal degeneration Penetrance for gene: SSBP1 were set to Complete Review for gene: SSBP1 was set to GREEN Added comment: Sources: Expert list |
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