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| Mendeliome v2.281 | SARDH | Bryony Thompson Publications for gene: SARDH were set to 22825317; 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.280 | SARDH |
Bryony Thompson edited their review of gene: SARDH: Added comment: Variable phenotype including normal individuals - assigning to amber **New evidence**: PMID 31815201 reports 11 cases with sarcosinemia and cognitive decline homozygous for three distinct loss‑of‑function SARDH variants (c.1553G>T, c.1540C>T, c.860C>T) and demonstrates markedly reduced blood SARDH activity and low urinary formaldehyde. Unsure if cases are related. PMID 42337718 adds one further case with compound heterozygous SARDH variants (c.293G>C missense and c.679C>T nonsense) presenting with acute childhood leukoencephalopathy and cytotoxic white‑matter edema. **Prior evidence**: PMID 22825317 reports 3 consanguineous and 1 UPD case with homozygous variants and variable clinical features, including normal phenotype (in 2 individuals), cardiomyopathy, and developmental delay.; Changed rating: AMBER; Changed publications: 42337718, 31815201, 22825317; Changed phenotypes: sarcosinemia, MONDO:0010008 |
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| Mendeliome v2.0 | SARDH | Gene migrated from ENSG00000123453 to ENSG00000123453 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6285 | SARDH | Zornitza Stark Marked gene: SARDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6285 | SARDH | Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6285 | SARDH | Zornitza Stark Phenotypes for gene: SARDH were changed from to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6284 | SARDH | Zornitza Stark Publications for gene: SARDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6283 | SARDH | Zornitza Stark Mode of inheritance for gene: SARDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6282 | SARDH | Zornitza Stark Classified gene: SARDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6282 | SARDH | Zornitza Stark Gene: sardh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6281 | SARDH | Zornitza Stark reviewed gene: SARDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 22825317, 27604308; Phenotypes: Sarcosinemia MIM#268900, Disorders of serine, glycine or glycerate metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SARDH |
Zornitza Stark gene: SARDH was added gene: SARDH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SARDH was set to Unknown |
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