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| Vitamin metabolism disorders v1.6 | MUT |
Bryony Thompson changed review comment from: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition. Sources: Expert list; to: It is not directly involved in cobalamin (vitamin B12) metabolism, but serum B12 levels are measured in diagnosing this condition. Included as a differential diagnosis. Sources: Expert list |
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| Vitamin metabolism disorders v1.4 | MUT | Bryony Thompson Marked gene: MUT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.4 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.4 | MUT | Bryony Thompson Classified gene: MUT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.4 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v1.3 | MUT |
Bryony Thompson gene: MUT was added gene: MUT was added to Vitamin metabolism disorders. Sources: Expert list Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 20301409 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Review for gene: MUT was set to GREEN gene: MUT was marked as current diagnostic Added comment: Involved in cobalamin (vitamin B12) metabolism. Serum B12 levels are measured in the diagnosis of this condition. Sources: Expert list |
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| Vitamin metabolism disorders v0.14 | HCFC1 |
Bryony Thompson gene: HCFC1 was added gene: HCFC1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to 24011988 Phenotypes for gene: HCFC1 were set to methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657; disorder of cobalamin metabolism Review for gene: HCFC1 was set to GREEN gene: HCFC1 was marked as current diagnostic Added comment: Sources: Literature |
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| Vitamin metabolism disorders v0.7 | PRDX1 |
Bryony Thompson gene: PRDX1 was added gene: PRDX1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: PRDX1 was set to Other Publications for gene: PRDX1 were set to 29302025; 35190856 Phenotypes for gene: PRDX1 were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Mode of pathogenicity for gene: PRDX1 was set to Other Review for gene: PRDX1 was set to GREEN Added comment: Only variants affecting the canonical splice acceptor site of intron 5 (e.g. c.515-1G-T, c.515-2A-T) that cause skipping of exon 6 and the polyA termination signal of PRDX1 produce an MMACHC epimutation. The resulting read-through transcript extends through the adjacent MMACHC locus in the antisense orientation. These PRDX1 exon 6 acceptor splice site variants cause disease through digenic inheritance with a pathogenic MMACHC on the other allele. Sources: Literature |
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| Vitamin metabolism disorders v0.2 | CUBN |
Bryony Thompson gene: CUBN was added gene: CUBN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CUBN were set to 10080186; 31613795 Phenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Review for gene: CUBN was set to GREEN Added comment: Sources: Literature |
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