| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Possible mitochondrial disorder - nuclear genes v0.9 | HARS2 | Ellen McDonagh Classified gene: HARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.9 | HARS2 | Ellen McDonagh Added comment: Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.9 | HARS2 | Ellen McDonagh Gene: hars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.8 | HARS2 | Ellen McDonagh Added comment: Comment on publications: PMID: 21464306: one family reported, compound het. Five affected siblings. Variants L200V and V368L. Functional evidence in c.elegans. PMID: 27650058 homozygous c.1010A>G (p.Tyr337Cys) patinets IV-1 and VI-I, not related but originated from the same region in Morocco and mutation characterised by the same haplotype, suggesting a founder effect. Sporadic. 1/121332 in Exac. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.8 | HARS2 | Ellen McDonagh Publications for gene: HARS2 were set to 21464306; 27650058 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.7 | HARS2 | Ellen McDonagh Publications for gene: HARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | HARS2 | Ivone Leong reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Perrault syndrome 2, 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | HARS2 |
Ivone Leong gene: HARS2 was added gene: HARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2, 614926 |
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