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Likely inborn error of metabolism v2.176 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders to Sjogren-Larsson syndrome, OMIM:270200
Likely inborn error of metabolism v2.107 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Likely inborn error of metabolism v1.369 LARS Catherine Snow Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to ?Infantile liver failure syndrome 1, 615438
Likely inborn error of metabolism v1.368 LARS Catherine Snow Publications for gene: LARS were set to 28774368; 30349989; 22607940
Likely inborn error of metabolism v1.368 LARS Catherine Snow Phenotypes for gene: LARS were changed from to ?Infantile liver failure syndrome 1, 615438
Likely inborn error of metabolism v1.367 LARS Catherine Snow Publications for gene: LARS were set to
Likely inborn error of metabolism v1.367 LARS Catherine Snow Mode of inheritance for gene: LARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.367 LARS Catherine Snow Classified gene: LARS as Green List (high evidence)
Likely inborn error of metabolism v1.367 LARS Catherine Snow Gene: lars has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.366 LARS Catherine Snow reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.262 LARS Louise Daugherty Tag new-gene-name tag was added to gene: LARS.
Likely inborn error of metabolism v1.262 LARS Louise Daugherty commented on gene: LARS
Likely inborn error of metabolism v1.254 ALDH3A2 Sarah Leigh reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 10792573, 10577908; Phenotypes: Sjogren-Larsson syndrome 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.47 LARS2 Ivone Leong Source NHS GMS was added to LARS2.
Source London North GLH was added to LARS2.
Likely inborn error of metabolism v0.4 LARS Ellen McDonagh gene: LARS was added
gene: LARS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LARS was set to Unknown
Likely inborn error of metabolism v0.4 LARS2 Ellen McDonagh Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2
Publications for gene LARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 LARS2 Ellen McDonagh gene: LARS2 was added
gene: LARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 27604308
Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders