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| Mitochondrial disease v0.693 | POLRMT | Zornitza Stark Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.692 | POLRMT | Zornitza Stark edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.581 | POLRMT | Zornitza Stark Marked gene: POLRMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.581 | POLRMT | Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.581 | POLRMT | Zornitza Stark Publications for gene: POLRMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.580 | POLRMT | Zornitza Stark Classified gene: POLRMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.580 | POLRMT | Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.579 | POLRMT | Zornitza Stark edited their review of gene: POLRMT: Changed publications: 33602924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.579 | POLRMT |
Zornitza Stark gene: POLRMT was added gene: POLRMT was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia Review for gene: POLRMT was set to GREEN Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. Sources: Literature |
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