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| Likely inborn error of metabolism - targeted testing not possible v3.6 | SSBP1 | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.6 | SSBP1 | Achchuthan Shanmugasundram commented on gene: SSBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.5 | 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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| Likely inborn error of metabolism - targeted testing not possible v2.212 | SSBP1 |
Sarah Leigh changed review comment from: Comment on mode of inheritance: 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: Comment on mode of inheritance: 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). |
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| Likely inborn error of metabolism - targeted testing not possible v2.212 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255; 31479473; 31479473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.211 | SSBP1 | Sarah Leigh Added comment: Comment on mode of inheritance: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.211 | SSBP1 | Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.210 | SSBP1 | Sarah Leigh Tag Q1_22_MOI tag was added to gene: SSBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.210 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.209 | SSBP1 | Sarah Leigh Phenotypes for gene: SSBP1 were changed from to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | SSBP1 | Catherine Snow commented on gene: SSBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | SSBP1 |
Catherine Snow gene: SSBP1 was added gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,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 |
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