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| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible 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 - targeted testing not possible 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 - targeted testing not possible v1.368 | LARS | Catherine Snow Publications for gene: LARS were set to 28774368; 30349989; 22607940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.368 | LARS | Catherine Snow Phenotypes for gene: LARS were changed from to ?Infantile liver failure syndrome 1, 615438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.367 | LARS | Catherine Snow Publications for gene: LARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible v1.367 | LARS | Catherine Snow Classified gene: LARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.367 | LARS | Catherine Snow Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible v1.262 | LARS | Louise Daugherty Tag new-gene-name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.262 | LARS | Louise Daugherty commented on gene: LARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible 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 - targeted testing not possible v1.47 | LARS2 |
Ivone Leong Source NHS GMS was added to LARS2. Source London North GLH was added to LARS2. |
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| Likely inborn error of metabolism - targeted testing not possible 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 |
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| Likely inborn error of metabolism - targeted testing not possible 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 |
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| Likely inborn error of metabolism - targeted testing not possible 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) |
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| Likely inborn error of metabolism - targeted testing not possible 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 |
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