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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 v2.172 | ARG1 | Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800 to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia, OMIM:207800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ARG1 |
Ivone Leong Source NHS GMS was added to ARG1. Source London North GLH was added to ARG1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ARG1 |
Ellen McDonagh gene: ARG1 was added gene: ARG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 27604308 Phenotypes for gene: ARG1 were set to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800 |
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