| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.47 | IARS2 |
Ivone Leong Source NHS GMS was added to IARS2. Source London North GLH was added to IARS2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2 Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 27604308; 25130867; 27078007 Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||