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Mitochondrial disorder with complex IV deficiency v3.19 COA4 Arina Puzriakova Classified gene: COA4 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.19 COA4 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.19 COA4 Arina Puzriakova Gene: coa4 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v3.18 COX17 Arina Puzriakova Classified gene: COX17 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.18 COX17 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.18 COX17 Arina Puzriakova Gene: cox17 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Classified gene: COX18 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.17 COX18 Arina Puzriakova Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v3.16 COX19 Arina Puzriakova Classified gene: COX19 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.16 COX19 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.16 COX19 Arina Puzriakova Gene: cox19 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v3.15 COX6B2 Arina Puzriakova Classified gene: COX6B2 as Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v3.15 COX6B2 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Mitochondrial disorder with complex IV deficiency v3.15 COX6B2 Arina Puzriakova Gene: cox6b2 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex IV deficiency v3.14 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).; Changed rating: GREEN
Mitochondrial disorder with complex IV deficiency v3.14 COX5A Sarah Leigh Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v3.14 COX5A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorder with complex IV deficiency v3.14 COX5A Sarah Leigh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v3.13 COX5A Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX5A.
Mitochondrial disorder with complex IV deficiency v3.13 COX5A Sarah Leigh Phenotypes for gene: COX5A were changed from Pulmonary arterial hypertension, lactic acidemia, and failure to thrive to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Mitochondrial disorder with complex IV deficiency v3.12 COX5A Sarah Leigh Publications for gene: COX5A were set to 28247525
Mitochondrial disorder with complex IV deficiency v3.11 COX11 Sarah Leigh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v3.11 COX11 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorder with complex IV deficiency v3.11 COX11 Sarah Leigh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v3.10 COX11 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX11.
Mitochondrial disorder with complex IV deficiency v3.10 COX11 Sarah Leigh reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex IV deficiency v3.10 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v3.9 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551; 38068960
Mitochondrial disorder with complex IV deficiency v3.8 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551
Mitochondrial disorder with complex IV deficiency v3.7 COX11 Sarah Leigh Publications for gene: COX11 were set to
Mitochondrial disorder with complex IV deficiency v3.6 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v3.5 COX11 Sarah Leigh Phenotypes for gene: COX11 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Mitochondrial disorder with complex IV deficiency v3.2 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Mitochondrial disorder with complex IV deficiency v3.2 COX16 Achchuthan Shanmugasundram commented on gene: COX16
Mitochondrial disorder with complex IV deficiency v3.2 COA6 Arina Puzriakova Phenotypes for gene: COA6 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Mitochondrial disorder with complex IV deficiency v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Mitochondrial disorder with complex IV deficiency v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: FASTKD2.
Tag Q3_22_NHS_review was removed from gene: FASTKD2.
Tag Q3_22_expert_review was removed from gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Tag Q3_22_NHS_review was removed from gene: COX6A2.
Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.4 FASTKD2 Achchuthan Shanmugasundram Source Expert Review Red was added to FASTKD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v2.4 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v2.3 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Mitochondrial disorder with complex IV deficiency v2.2 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Mitochondrial disorder with complex IV deficiency v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Mitochondrial disorder with complex IV deficiency v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Arina Puzriakova Publications for gene: FASTKD2 were set to 28499982
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: None; Publications: 31944455; Phenotypes: Combined oxidative phosphorylation deficiency 44, OMIM:618855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Mitochondrial disorder with complex IV deficiency v1.22 PET117 Arina Puzriakova Phenotypes for gene: PET117 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Mitochondrial disorder with complex IV deficiency v1.21 COX6A2 Arina Puzriakova Publications for gene: COX6A2 were set to
Mitochondrial disorder with complex IV deficiency v1.20 COX6A2 Arina Puzriakova Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.19 COX6A2 Arina Puzriakova Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Mitochondrial disorder with complex IV deficiency v1.18 COX16 Arina Puzriakova edited their review of gene: COX16: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.; Changed rating: AMBER; Set current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v1.17 COX6A2 Arina Puzriakova edited their review of gene: COX6A2: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 31155743, 23460811, 32744742; Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v1.16 COX6A2 Arina Puzriakova commented on gene: COX6A2
Mitochondrial disorder with complex IV deficiency v1.16 COX6A2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: COX6A2.
Tag Q3_22_NHS_review tag was added to gene: COX6A2.
Mitochondrial disorder with complex IV deficiency v1.16 COX16 Arina Puzriakova reviewed gene: COX16: Rating: ; Mode of pathogenicity: None; Publications: 33169484; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.16 COX16 Arina Puzriakova Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.15 COX16 Arina Puzriakova Publications for gene: COX16 were set to
Mitochondrial disorder with complex IV deficiency v1.14 COX16 Arina Puzriakova Phenotypes for gene: COX16 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Hypertrophic cardiomyopathy; Encephalopathy; Severe fatal lactic acidosis
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh Tag for-review was removed from gene: SQOR.
Tag Q2_21_rating was removed from gene: SQOR.
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1: Comment from NHS Genomic Medicine Service: patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosisĀ and decreased mitochondrial respiratory chain complex IV in tissue.
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Tag for-review was removed from gene: COX4I1.
Tag Q2_21_rating was removed from gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1
Mitochondrial disorder with complex IV deficiency v1.13 SQOR Sarah Leigh Source Expert Review Green was added to SQOR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.12 COX4I1 Ivone Leong Tag Q2_21_rating tag was added to gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.12 SQOR Ivone Leong Tag Q2_21_rating tag was added to gene: SQOR.
Mitochondrial disorder with complex IV deficiency v1.12 APOPT1 Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Mitochondrial disorder with complex IV deficiency v1.11 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong commented on gene: COX4I1: This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. Based on the fact that there are now 2 unrelated cases and functional studies there is enough evidence for this gene to be Green.
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong Tag for-review tag was added to gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Mitochondrial disorder with complex IV deficiency v1.9 COX4I1 Ivone Leong Publications for gene: COX4I1 were set to 28766551
Mitochondrial disorder with complex IV deficiency v1.8 COX4I1 Carl Fratter edited their review of gene: COX4I1: Added comment: GMS to consider whether there is now sufficient evidence for this gene to be green; Changed publications: 28766551, 31290619; Changed phenotypes: OMIM #619060
Mitochondrial disorder with complex IV deficiency v1.8 SQOR Sarah Leigh Publications for gene: SQOR were set to PMID: 32160317
Mitochondrial disorder with complex IV deficiency v1.7 SQOR Sarah Leigh Tag for-review tag was added to gene: SQOR.
Mitochondrial disorder with complex IV deficiency v1.7 SQOR Sarah Leigh Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v1.7 SQOR Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorder with complex IV deficiency v1.7 SQOR Sarah Leigh Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v1.6 SQOR Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity.; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity. They conclude that "SQOR deficiency represents a new, potentially treatable, cause of Leigh disease".
Mitochondrial disorder with complex IV deficiency v1.6 SQOR Sarah Leigh reviewed gene: SQOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex IV deficiency v1.6 SQOR Carl Fratter gene: SQOR was added
gene: SQOR was added to Mitochondrial disorder with complex IV deficiency. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to PMID: 32160317
Phenotypes for gene: SQOR were set to Leigh syndrome
Review for gene: SQOR was set to AMBER
Added comment: Requires review for GMS - should this be considered a primary mitochondrial disorder?
Sources: Literature
Mitochondrial disorder with complex IV deficiency v1.6 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Mitochondrial disorder with complex IV deficiency v1.5 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Mitochondrial disorder with complex IV deficiency 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 disorder with complex IV deficiency v1.3 Sarah Leigh Panel version has been signed off
Mitochondrial disorder with complex IV deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex IV deficiency v0.43 Ellen McDonagh List of related panels changed from to R356
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex IV deficiency v0.41 COA7 Sarah Leigh Added comment: Comment on phenotypes: ?Mitochondrial complex IV deficiency, 220110 has been removed from this gene as COA7 is not associated with this phenotype.
Mitochondrial disorder with complex IV deficiency v0.41 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Marked gene: COX8A as ready
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Publications for gene: COX8A were set to
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Marked gene: COX7C as ready
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Publications for gene: COX7C were set to
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Marked gene: COX7A1 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Marked gene: COX6C as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Marked gene: COX6B2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Marked gene: COX6A2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Marked gene: COX5B as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Marked gene: COX5A as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Marked gene: COX4I2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Marked gene: COX4I1 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Marked gene: COX19 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Marked gene: COX18 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Marked gene: COX17 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Marked gene: COX16 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Marked gene: COX11 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Marked gene: COA7 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Classified gene: COA7 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.36 COA7 Ellen McDonagh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Mitochondrial disorder with complex IV deficiency v0.35 COA7 Ellen McDonagh Publications for gene: COA7 were set to
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Marked gene: COA6 as ready
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Classified gene: COA6 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases (with different variants) reported, with supporting functional evidence including a knockout zebrafish model.
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.33 COA6 Ellen McDonagh Publications for gene: COA6 were set to
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Marked gene: COA5 as ready
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Publications for gene: COA5 were set to
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Marked gene: COA4 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Marked gene: COA3 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Marked gene: COA1 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 NDUFA4 Carl Fratter reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX8A Carl Fratter reviewed gene: COX8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26685157; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX7C Carl Fratter reviewed gene: COX7C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30634555; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX7A1 Carl Fratter reviewed gene: COX7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6C Carl Fratter reviewed gene: COX6C: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6B2 Carl Fratter reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6A2 Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX5B Carl Fratter reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX5A Carl Fratter reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX4I2 Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX4I1 Carl Fratter reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX19 Carl Fratter reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX17 Carl Fratter reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX16 Carl Fratter reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX11 Carl Fratter reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: no mito reports found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COA7 Carl Fratter reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COA6 Carl Fratter reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22277967, 24549041, 25959673, 25339201; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COA5 Carl Fratter edited their review of gene: COA5: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studies; Changed publications: 21457908; Changed phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Carl Fratter reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Carl Fratter edited their review of gene: COA3: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies; Changed publications: 25604084; Changed phenotypes: No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Carl Fratter reviewed gene: COA1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 CEP89 Carl Fratter reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.30 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Mitochondrial disorder with complex IV deficiency v0.30 APOPT1 Louise Daugherty commented on gene: APOPT1
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Classified gene: COX8A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Classified gene: COX7C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Classified gene: COX7A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Classified gene: COX6C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Classified gene: COX6B2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Classified gene: COX4I2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Classified gene: COX19 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Classified gene: COX17 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Classified gene: COA6 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Gene: coa6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Classified gene: COA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Classified gene: COA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Classified gene: COA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Classified gene: COA1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.7 PET117 Ellen McDonagh Marked gene: PET117 as ready
Mitochondrial disorder with complex IV deficiency v0.7 PET117 Ellen McDonagh Gene: pet117 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.7 PET117 Ellen McDonagh Classified gene: PET117 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.7 PET117 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.
Mitochondrial disorder with complex IV deficiency v0.7 PET117 Ellen McDonagh Gene: pet117 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.6 OXA1L Ellen McDonagh Marked gene: OXA1L as ready
Mitochondrial disorder with complex IV deficiency v0.6 OXA1L Ellen McDonagh Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.6 OXA1L Ellen McDonagh Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.6 OXA1L Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.
Mitochondrial disorder with complex IV deficiency v0.6 OXA1L Ellen McDonagh Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.5 CEP89 Ellen McDonagh Marked gene: CEP89 as ready
Mitochondrial disorder with complex IV deficiency v0.5 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.5 CEP89 Ellen McDonagh Classified gene: CEP89 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.5 CEP89 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single rpeort has been published.
Mitochondrial disorder with complex IV deficiency v0.5 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.3 TACO1 Ivone Leong reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SURF1 Ivone Leong reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SCO2 Ivone Leong reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 SCO1 Ivone Leong reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 PET117 Ivone Leong reviewed gene: PET117: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 PET100 Ivone Leong reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 OXA1L Ivone Leong reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 NDUFA4 Ivone Leong reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 LRPPRC Ivone Leong reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 FASTKD2 Ivone Leong reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX8A Ivone Leong reviewed gene: COX8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX7C Ivone Leong reviewed gene: COX7C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX7B Ivone Leong reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex IV deficiency v0.3 COX7A1 Ivone Leong reviewed gene: COX7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6C Ivone Leong reviewed gene: COX6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6B2 Ivone Leong reviewed gene: COX6B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6B1 Ivone Leong reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX6A2 Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX6A1 Ivone Leong reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX5B Ivone Leong reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX5A Ivone Leong reviewed gene: COX5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: Pulmonary arterial hypertension, lactic acidemia, and failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX4I2 Ivone Leong reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX4I1 Ivone Leong reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX20 Ivone Leong reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX19 Ivone Leong reviewed gene: COX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX17 Ivone Leong reviewed gene: COX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX16 Ivone Leong reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX15 Ivone Leong reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX14 Ivone Leong reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COX11 Ivone Leong reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COX10 Ivone Leong reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA7 Ivone Leong reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA6 Ivone Leong reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA5 Ivone Leong reviewed gene: COA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA4 Ivone Leong reviewed gene: COA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 COA3 Ivone Leong reviewed gene: COA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604084; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 COA1 Ivone Leong reviewed gene: COA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.3 CEP89 Ivone Leong reviewed gene: CEP89: Rating: GREEN; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.3 APOPT1 Ivone Leong reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.2 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Mitochondrial disorder with complex IV deficiency v0.2 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Mitochondrial disorder with complex IV deficiency v0.2 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,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
Mitochondrial disorder with complex IV deficiency v0.2 PET117 Ivone Leong gene: PET117 was added
gene: PET117 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 OXA1L Ivone Leong gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Mitochondrial disorder with complex IV deficiency v0.2 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX8A Ivone Leong gene: COX8A was added
gene: COX8A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX7C Ivone Leong gene: COX7C was added
gene: COX7C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7C was set to Unknown
Phenotypes for gene: COX7C were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Mitochondrial disorder with complex IV deficiency v0.2 COX7A1 Ivone Leong gene: COX7A1 was added
gene: COX7A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7A1 was set to Unknown
Phenotypes for gene: COX7A1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6C Ivone Leong gene: COX6C was added
gene: COX6C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6C was set to Unknown
Phenotypes for gene: COX6C were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6B2 Ivone Leong gene: COX6B2 was added
gene: COX6B2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX6A2 Ivone Leong gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Mitochondrial disorder with complex IV deficiency v0.2 COX5B Ivone Leong gene: COX5B was added
gene: COX5B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5B was set to Unknown
Phenotypes for gene: COX5B were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX5A Ivone Leong gene: COX5A was added
gene: COX5A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Mitochondrial disorder with complex IV deficiency v0.2 COX4I2 Ivone Leong gene: COX4I2 was added
gene: COX4I2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Mitochondrial disorder with complex IV deficiency v0.2 COX4I1 Ivone Leong gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX19 Ivone Leong gene: COX19 was added
gene: COX19 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX17 Ivone Leong gene: COX17 was added
gene: COX17 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX16 Ivone Leong gene: COX16 was added
gene: COX16 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Mitochondrial disorder with complex IV deficiency v0.2 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COX11 Ivone Leong gene: COX11 was added
gene: COX11 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.2 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Mitochondrial disorder with complex IV deficiency v0.2 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Mitochondrial disorder with complex IV deficiency v0.2 COA4 Ivone Leong gene: COA4 was added
gene: COA4 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COA3 Ivone Leong gene: COA3 was added
gene: COA3 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA3 were set to 25604084
Phenotypes for gene: COA3 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 COA1 Ivone Leong gene: COA1 was added
gene: COA1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA1 was set to Unknown
Phenotypes for gene: COA1 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 CEP89 Ivone Leong gene: CEP89 was added
gene: CEP89 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to 23575228
Phenotypes for gene: CEP89 were set to No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.2 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Mitochondrial disorder with complex IV deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex IV deficiency
Set panel types to: GMS Rare Disease