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| Mitochondrial liver disease, including transient infantile liver failure v1.10 | Arina Puzriakova Panel version 1.9 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.9 |
Sarah Leigh Panel name changed from Mitochondrial liver disease to Mitochondrial liver disease, including transient infantile liver failure List of related panels changed from R317 to Mitochondrial liver disease; R317 |
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| Mitochondrial liver disease, including transient infantile liver failure v1.8 | TWNK | Arina Puzriakova Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.7 | POLG2 | Arina Puzriakova Publications for gene: POLG2 were set to 30157269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.6 | POLG2 | Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.5 | TFAM | Arina Puzriakova Phenotypes for gene: TFAM were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.4 | SCO1 | Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.7 |
Ellen McDonagh List of related panels changed from to R317 Panel types changed to GMS Rare Disease; GMS signed-off |
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| Mitochondrial liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Classified gene: TFAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Added comment: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.5 | TFAM | Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | SCO1 | Ellen McDonagh Marked gene: SCO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | SCO1 | Ellen McDonagh Added comment: Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | SCO1 | Ellen McDonagh Gene: sco1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | RRM2B | Ellen McDonagh Marked gene: RRM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | RRM2B | Ellen McDonagh Added comment: Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | RRM2B | Ellen McDonagh Gene: rrm2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | POLG2 | Ellen McDonagh Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | POLG2 | Ellen McDonagh Added comment: Comment when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | POLG2 | Ellen McDonagh Gene: polg2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh Marked gene: ACAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh Gene: acad9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.4 | ACAD9 | Ellen McDonagh commented on gene: ACAD9: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as there is insufficient evidence for a liver-specific phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | TFAM | Ivone Leong reviewed gene: TFAM: Rating: RED; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | SCO1 | Ivone Leong reviewed gene: SCO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | RRM2B | Ivone Leong reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: ; Publications: 27483465; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | POLG2 | Ivone Leong reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | ACAD9 | Ivone Leong reviewed gene: ACAD9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | TWNK | Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30391088; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | TRMU | Ivone Leong reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIVER FAILURE, INFANTILE, TRANSIENT, 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | POLG | Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | MPV17 | Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | DGUOK | Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.3 | BCS1L | Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial liver disease, including transient infantile liver failure v0.2 | TFAM |
Ivone Leong gene: TFAM was added gene: TFAM was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE), 617156 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | SCO1 |
Ivone Leong gene: SCO1 was added gene: SCO1 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | RRM2B |
Ivone Leong gene: RRM2B was added gene: RRM2B was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: RRM2B were set to 27483465 Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | POLG2 |
Ivone Leong gene: POLG2 was added gene: POLG2 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: POLG2 were set to 30157269 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | ACAD9 |
Ivone Leong gene: ACAD9 was added gene: ACAD9 was added to Mitochondrial liver disease. Sources: NHS GMS Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | TWNK |
Ivone Leong gene: TWNK was added gene: TWNK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TWNK were set to 30391088 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | TRMU |
Ivone Leong gene: TRMU was added gene: TRMU was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to LIVER FAILURE, INFANTILE, TRANSIENT, 613070 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | POLG |
Ivone Leong gene: POLG was added gene: POLG was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | MPV17 |
Ivone Leong gene: MPV17 was added gene: MPV17 was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | DGUOK |
Ivone Leong gene: DGUOK was added gene: DGUOK was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.2 | BCS1L |
Ivone Leong gene: BCS1L was added gene: BCS1L was added to Mitochondrial liver disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000 |
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| Mitochondrial liver disease, including transient infantile liver failure v0.0 |
Ellen McDonagh Added Panel Mitochondrial liver disease Set panel types to: GMS Rare Disease |
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