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| Mitochondrial disorders v4.167 | G6PC | Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia to Glycogen storage disease Ia, OMIM:232200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.125 | PCK2 | Achchuthan Shanmugasundram Classified gene: PCK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.125 | PCK2 | Achchuthan Shanmugasundram Gene: pck2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.124 | PCK2 | Achchuthan Shanmugasundram Phenotypes for gene: PCK2 were changed from PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.124 | PCK2 | Achchuthan Shanmugasundram Phenotypes for gene: PCK2 were changed from Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.123 | PCK2 | Achchuthan Shanmugasundram reviewed gene: PCK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36845668; Phenotypes: PEPCK deficiency, mitochondrial, OMIM:261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | PCK2 |
Hannah Knight gene: PCK2 was added gene: PCK2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK2 were set to 36845668 Phenotypes for gene: PCK2 were set to Abnormal gait; peripheral neuropathy Review for gene: PCK2 was set to AMBER Added comment: PMID: 36845668 (2023) identified three patients in two families with a common phenotype and likely pathogenic variants in PCK2: A 3-year-old girl with ataxia and weakness, who was found to be compound heterozygous for p.Ser23Ter and p.Pro170Leu Two siblings with abnormal gait and weakness who were found to both be homozygous for p.Arg193Ter. Unaffected sibling did not carry the variant Sources: Literature |
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| Mitochondrial disorders v4.23 | PC | Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.13 | MPC1 | Arina Puzriakova Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.109 | G6PC | Arina Puzriakova commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.108 | G6PC |
Arina Puzriakova Source Expert Review Red was added to G6PC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Mitochondrial disorders v2.84 | XPNPEP3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; to: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.84 | XPNPEP3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift.; to: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.84 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.35 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.19 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.19 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | G6PC | Zornitza Stark reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.349 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, 617954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.348 | PMPCB | Sarah Leigh Publications for gene: PMPCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.347 | PMPCB | Sarah Leigh Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.346 | PMPCB | Sarah Leigh Classified gene: PMPCB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.346 | PMPCB | Sarah Leigh Gene: pmpcb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | PMPCB |
Sarah Leigh gene: PMPCB was added gene: PMPCB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PMPCB was set to |
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| Mitochondrial disorders v1.254 | MPC1 | Ivone Leong Classified gene: MPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.254 | MPC1 | Ivone Leong Gene: mpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.253 | MPC1 | Ivone Leong Added comment: Comment on publications: PMID: 27176894 and 27835892 describe mouse models of MPC1 (a knockin model and a knockout model) showing the effects MPC1 has on mitochondrial function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.253 | MPC1 | Ivone Leong Publications for gene: MPC1 were set to 22628558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.252 | MPC1 | Ivone Leong Publications for gene: MPC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.251 | MPC1 | Ivone Leong Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders | MPC1 | Zornitza Stark reviewed gene: MPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||