Activity
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24 actions
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| Possible mitochondrial disorder - nuclear genes v4.19 | BTD | Ida Ertmanska changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green. ClinGen mitochondrial gene curation expert panel classified the association between BTD and Leigh syndrome as Moderate. Biotinidase deficiency leads to deficiency of a number of carboxylases including pyruvate carboxylase (PC) and PC is also a green gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.103 | G6PC | Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 to Glycogen storage disease Ia, OMIM:232200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.24 | PC | Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 to Pyruvate carboxylase deficiency, OMIM:266150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.14 | MPC1 | Arina Puzriakova Phenotypes for gene: MPC1 were changed from Lactic acidosis and hyperpyruvatemia to Mitochondrial pyruvate carrier deficiency, OMIM:614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.42 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.37 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.37 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.168 | PMPCB | Ellen McDonagh Classified gene: PMPCB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.168 | PMPCB | Ellen McDonagh Gene: pmpcb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.167 | PMPCB | Ellen McDonagh Phenotypes for gene: PMPCB were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6, 617954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.166 | PMPCB | Ellen McDonagh Publications for gene: PMPCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.134 | PMPCB | Carl Fratter reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576218; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.117 | PMPCB | Ellen McDonagh Classified gene: PMPCB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.117 | PMPCB | Ellen McDonagh Gene: pmpcb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | G6PC | Ivone Leong reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease Ia, 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | PMPCB | Ivone Leong reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | PMPCA | Ivone Leong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | PC | Ivone Leong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | MPC1 | Ivone Leong reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22628558; Phenotypes: Lactic acidosis and hyperpyruvatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.4 | G6PC |
Ivone Leong gene: G6PC was added gene: G6PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 |
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| Possible mitochondrial disorder - nuclear genes v0.3 | PMPCB |
Ivone Leong gene: PMPCB was added gene: PMPCB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCB were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954 |
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| Possible mitochondrial disorder - nuclear genes v0.3 | PMPCA |
Ivone Leong gene: PMPCA was added gene: PMPCA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCA were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200 |
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| Possible mitochondrial disorder - nuclear genes v0.3 | PC |
Ivone Leong gene: PC was added gene: PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 |
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| Possible mitochondrial disorder - nuclear genes v0.2 | MPC1 |
Ivone Leong gene: MPC1 was added gene: MPC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC1 were set to 22628558 Phenotypes for gene: MPC1 were set to Lactic acidosis and hyperpyruvatemia |
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