| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.807 | MRPS2 | Zornitza Stark Publications for gene: MRPS2 were set to 29576219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.806 | MRPS2 | Zornitza Stark commented on gene: MRPS2: PMID 34991560: third family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.806 | MRPS2 | Zornitza Stark edited their review of gene: MRPS2: Changed publications: 29576219, 34991560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.505 | MRPS25 | Zornitza Stark Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM# 619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.504 | MRPS25 | Zornitza Stark edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.455 | MRPS28 | Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.454 | MRPS28 | Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.454 | MRPS23 | Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.453 | MRPS23 | Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 | Zornitza Stark Marked gene: MRPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 | Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.347 | MRPS28 |
Zornitza Stark gene: MRPS28 was added gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS28 were set to 30566640 Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism Review for gene: MRPS28 was set to RED Added comment: Single individual reported. Sources: Expert list |
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| Mitochondrial disease v0.346 | MRPS25 | Zornitza Stark Marked gene: MRPS25 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.346 | MRPS25 | Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.346 | MRPS25 |
Zornitza Stark gene: MRPS25 was added gene: MRPS25 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS25 were set to 31039582 Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum Review for gene: MRPS25 was set to RED Added comment: Single individual reported. Sources: Expert list |
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| Mitochondrial disease v0.345 | MRPS23 | Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.344 | MRPS23 | Zornitza Stark Publications for gene: MRPS23 were set to 26741492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.343 | MRPS23 | Zornitza Stark Classified gene: MRPS23 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.343 | MRPS23 | Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.342 | MRPS23 | Zornitza Stark edited their review of gene: MRPS23: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.342 | MRPS23 | Zornitza Stark edited their review of gene: MRPS23: Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.342 | MRPS22 | Zornitza Stark Marked gene: MRPS22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.342 | MRPS22 | Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.342 | MRPS22 | Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.341 | MRPS22 | Zornitza Stark Publications for gene: MRPS22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.340 | MRPS22 | Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.339 | MRPS22 | Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.339 | MRPS2 | Zornitza Stark Marked gene: MRPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.339 | MRPS2 | Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.339 | MRPS2 | Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.338 | MRPS2 | Zornitza Stark Publications for gene: MRPS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.337 | MRPS2 | Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.336 | MRPS2 | Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.68 | MRPS23 | Zornitza Stark Marked gene: MRPS23 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.68 | MRPS23 | Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.68 | MRPS23 | Zornitza Stark Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.67 | MRPS23 | Zornitza Stark Publications for gene: MRPS23 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.66 | MRPS23 | Zornitza Stark Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.65 | MRPS23 | Zornitza Stark Classified gene: MRPS23 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.65 | MRPS23 | Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.64 | MRPS23 | Zornitza Stark reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | MRPS23 |
Zornitza Stark gene: MRPS23 was added gene: MRPS23 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS23 was set to Unknown |
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| Mitochondrial disease v0.0 | MRPS22 |
Zornitza Stark gene: MRPS22 was added gene: MRPS22 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS22 was set to Unknown |
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| Mitochondrial disease v0.0 | MRPS2 |
Zornitza Stark gene: MRPS2 was added gene: MRPS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS2 was set to Unknown |
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