| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v0.863 | PPCS | Bryony Thompson Publications for gene: PPCS were set to 29754768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.863 | PPCS | Bryony Thompson Classified gene: PPCS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.863 | PPCS | Bryony Thompson Gene: ppcs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.849 | MPC2 | Zornitza Stark Marked gene: MPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.849 | MPC2 | Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.849 | MPC2 | Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.849 | MPC2 | Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.848 | MPC2 |
Naomi Baker gene: MPC2 was added gene: MPC2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC2 were set to 36417180 Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Review for gene: MPC2 was set to AMBER Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.821 | MPC1 | Zornitza Stark Marked gene: MPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.821 | MPC1 | Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.821 | MPC1 | Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.820 | MPC1 | Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.819 | MPC1 | Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.818 | MPC1 | Zornitza Stark Publications for gene: MPC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.817 | MPC1 | Zornitza Stark Mode of inheritance for gene: MPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.816 | MPC1 | Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.815 | MPC1 | Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.622 | SLC25A46 |
Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. At least 10 unrelated families reported, supportive functional data. Mitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum. At least 10 unrelated families reported, supportive functional data. Mitochondrial carrier protein. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.350 | PPCS | Zornitza Stark Marked gene: PPCS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.350 | PPCS | Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.350 | PPCS | Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.350 | PPCS | Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.349 | PPCS |
Zornitza Stark gene: PPCS was added gene: PPCS was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPCS were set to 29754768 Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189 Review for gene: PPCS was set to AMBER Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.334 | EXOSC3 |
Zornitza Stark gene: EXOSC3 was added gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 28687512 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction Review for gene: EXOSC3 was set to AMBER Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.156 | PC | Zornitza Stark Marked gene: PC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.156 | PC | Zornitza Stark Gene: pc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.156 | PC | Zornitza Stark Classified gene: PC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.156 | PC | Zornitza Stark Gene: pc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.155 | PC |
Zornitza Stark gene: PC was added gene: PC was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM# 266150 Review for gene: PC was set to GREEN Added comment: Multiple families reported. Spectrum of severity ranging from death in infancy to a relatively benign condition. Correlates with variant impact with more severely affected individuals having at least one truncating variant. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | PMPCB |
Zornitza Stark gene: PMPCB was added gene: PMPCB 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: PMPCB was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | PMPCA |
Zornitza Stark gene: PMPCA was added gene: PMPCA 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: PMPCA was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | MPC1 |
Zornitza Stark gene: MPC1 was added gene: MPC1 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: MPC1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||