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| Retinal disorders v3.26 | SSBP1 | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.26 | SSBP1 | Achchuthan Shanmugasundram commented on gene: SSBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.25 | 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 |
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| Retinal disorders v2.243 | SSBP1 | Ivone Leong Tag for-review was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | SSBP1 | Ivone Leong commented on gene: SSBP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | SSBP1 |
Ivone Leong Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.240 | SSBP1 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.240 | SSBP1 | Sarah Leigh reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.240 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.144 | SSBP1 | Ivone Leong Classified gene: SSBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.144 | SSBP1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be reviewed by the GMS specialist group to see whether the phenotype is appropriate to be included in this panel. This gene is Green on the Optic neuropathy panel (Version 2.29). |
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| Retinal disorders v2.144 | SSBP1 | Ivone Leong Gene: ssbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.143 | SSBP1 | Ivone Leong Tag for-review tag was added to gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.143 | SSBP1 | Ivone Leong Phenotypes for gene: SSBP1 were changed from Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.20 | SSBP1 |
Zornitza Stark gene: SSBP1 was added gene: SSBP1 was added to Retinal disorders. 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 31298765; 31479473; 31550237; 31550240 Phenotypes for gene: SSBP1 were set to Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Review for gene: SSBP1 was set to GREEN Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model. Consider including here as well as the optic atrophy panel due to retinal features. Sources: Expert list |
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