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| Likely inborn error of metabolism - targeted testing not possible v4.88 | LDHD | Sarah Leigh edited their review of gene: LDHD: Added comment: LDHD variants have been associated with D-lactic aciduria with susceptibility to gout (OMIM:245450), but not with a phenotype in Gen2Phen. At least seven LDHD variants have been reported in seven unrelated cases (PMID: 30931947;31638601;34258137;37021930).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.88 | LDHD | Sarah Leigh Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout, OMIM:245450 to D-lactic aciduria with susceptibility to gout, OMIM:245450; lactic aciduria due to D-lactic acid, MONDO:0009505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.87 | LDHD | Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.87 | LDHD | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.87 | LDHD | Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.86 | LDHD | Sarah Leigh Publications for gene: LDHD were set to 30931947; 31638601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.85 | LDHD | Sarah Leigh Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout to D-lactic aciduria with susceptibility to gout, OMIM:245450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.84 | LDHD | Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.84 | LDHD | Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.84 | LDHD | Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.84 | LDHD | Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.77 | LDHD |
Hannah Knight gene: LDHD was added gene: LDHD was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHD were set to 30931947; 31638601 Phenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout Review for gene: LDHD was set to AMBER Added comment: PMID: 30931947 (2019) reported two unrelated patients with homozygous missense variants in LDHD (p.Thr463Met and p.Trp374Cys) PMID: 31638601 (2019) reported a 4-generation consanguineous Bedouin-Israeli family with autosomal recessive hyperuricemia. A homozygous missense variant in LDHD was identified (p.R370W) Sources: Literature |
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