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Mitochondrial disorder with complex V deficiency v3.6 Achchuthan Shanmugasundram List of related panels changed from R357 to R357; GT640; TP221
Mitochondrial disorder with complex V deficiency v3.5 USMG5 Ida Ertmanska Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v3.5 USMG5 Ida Ertmanska Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v3.4 USMG5 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: USMG5.
Mitochondrial disorder with complex V deficiency v3.4 USMG5 Ida Ertmanska commented on gene: USMG5: Comment on list classification: There are 2 unrelated families reported in literature where biallelic USMG5 (ATP5MK) variants are shown to cause mitochondrial disease. In addition, functional evidence shows that ATP5MK knockdown leads to loss of ATP synthase in mitochondria. Taken together, there is enough evidence to promote this gene to Green at the next update.
Mitochondrial disorder with complex V deficiency v3.4 USMG5 Ida Ertmanska commented on gene: USMG5: Added new-gene-name tag, new approved HGNC gene symbol for USMG5 is ATP5MK
Mitochondrial disorder with complex V deficiency v3.4 USMG5 Ida Ertmanska gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disorder with complex V deficiency. Sources: Literature
new-gene-name tags were added to gene: USMG5.
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 21345788; 29903433; 29917077; 30240627; 40014158
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683; mitochondrial respiratory chain complex deficiency, MONDO:0000066
Review for gene: USMG5 was set to GREEN
Added comment: PMID: 40014158 İpek et al. 2025
4 Turkish brothers affected by mitochondrial disease, aged 13-25 yrs. All 4 had history of neurodegenerative disease, exhibited intellectual disability, muscle weakness, increased deep tendon reflexes in the lower extremities, spasticity, scoliosis, pes cavus deformity, positive Babinski reflex, abnormal gait patterns due to foot deformities, and normal cerebellar tests. Additional findings included geographic tongue (n = 2), strabismus (n = 2), nystagmus (n = 1), ophthalmoplegia (n = 2), hypertrophic upper extremity muscle body build (n = 2), keloid tissue (n = 1), and short stature (n = 3). ES identified a homozygous splice donor variant (c.87+1G > A) in the ATP5MK gene. Unaffected parents were het for the variant. The c.87+1G>A variant has 16 alleles reported in gnomAD, no homozygotes.

PMID 29917077 Barca et al., 2018
Homozygous founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Supportive functional studies are also reported: USMG5 mutated fibroblasts have reduced ATP synthesis. Transfection with wild-type USMG5 rescues CV dimerization and ATP production.

PMID: 21345788 Ohsakaya et al., 2011
Knockdown of USMG5 (ATP5MK) in HeLa cells results in loss of ATP synthase in mitochondria.

ATP5MK association with AR Leigh syndrome has been classified as Moderate in ClinGen (Mitochondrial Diseases GCEP, Aug 2020).
Sources: Literature
Mitochondrial disorder with complex V deficiency v3.3 Ida Ertmanska Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex V deficiency v3.2 Ida Ertmanska Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex V deficiency v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2025-04-30
Mitochondrial disorder with complex V deficiency v3.0 Eleanor Williams promoted panel to version 3.0
Mitochondrial disorder with complex V deficiency v2.18 ATP5O Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ATP5O.
Mitochondrial disorder with complex V deficiency v2.18 ATP5E Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ATP5E.
Mitochondrial disorder with complex V deficiency v2.18 ATP5O Achchuthan Shanmugasundram reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v2.18 ATP5E Achchuthan Shanmugasundram reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v2.17 ATP5O Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex V deficiency v2.17 ATP5E Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex V deficiency v2.16 ATPAF1 Arina Puzriakova Classified gene: ATPAF1 as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v2.16 ATPAF1 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 V deficiency v2.16 ATPAF1 Arina Puzriakova Gene: atpaf1 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v2.15 ATP5J2 Arina Puzriakova Classified gene: ATP5J2 as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v2.15 ATP5J2 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with a human disease.
Mitochondrial disorder with complex V deficiency v2.15 ATP5J2 Arina Puzriakova Gene: atp5j2 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v2.14 ATP5E Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ATP5E.
Mitochondrial disorder with complex V deficiency v2.14 ATP5E Sarah Leigh Publications for gene: ATP5E were set to
Mitochondrial disorder with complex V deficiency v2.13 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Mitochondrial disorder with complex V deficiency v2.12 ATP5E Sarah Leigh reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 34954817, 20566710; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex V deficiency v2.12 ATP5B Sarah Leigh commented on gene: ATP5B: In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".
Mitochondrial disorder with complex V deficiency v2.12 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex V deficiency v2.12 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Mitochondrial disorder with complex V deficiency v2.11 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorder with complex V deficiency v2.10 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Mitochondrial disorder with complex V deficiency v2.9 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Mitochondrial disorder with complex V deficiency v2.6 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Mitochondrial disorder with complex V deficiency v2.5 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Mitochondrial disorder with complex V deficiency v2.4 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Mitochondrial disorder with complex V deficiency v2.3 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v2.2 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v2.2 ATP5O Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update.
Mitochondrial disorder with complex V deficiency v2.2 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v2.1 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Mitochondrial disorder with complex V deficiency v2.1 ATP5O Arina Puzriakova reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817, 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2023-03-22
Mitochondrial disorder with complex V deficiency v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Mitochondrial disorder with complex V deficiency v1.17 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Tag Q3_22_NHS_review was removed from gene: ATP5G3.
Mitochondrial disorder with complex V deficiency v1.17 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Mitochondrial disorder with complex V deficiency v1.17 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex V deficiency v1.17 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex V deficiency v1.16 ATP5G3 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex V deficiency v1.16 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex V deficiency v1.15 ATP5G3 Arina Puzriakova Publications for gene: ATP5G3 were set to
Mitochondrial disorder with complex V deficiency v1.14 ATP5G3 Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Mitochondrial disorder with complex V deficiency v1.13 ATP5G3 Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorder with complex V deficiency v1.12 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to 23596069; 23599390
Mitochondrial disorder with complex V deficiency v1.11 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Mitochondrial disorder with complex V deficiency v1.10 ATP5G3 Arina Puzriakova edited their review of gene: ATP5G3: 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: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Mitochondrial disorder with complex V deficiency v1.10 ATP5A1 Arina Puzriakova commented on gene: ATP5A1: 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. MOI has also been updated from biallelic to both mono- and biallelic inline with this review.
Mitochondrial disorder with complex V deficiency v1.9 ATP5A1 Arina Puzriakova reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34483339, 23596069, 23599390, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228, Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v1.8 ATP5G3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3.
Tag Q3_22_NHS_review tag was added to gene: ATP5G3.
Mitochondrial disorder with complex V deficiency v1.8 ATP5G3 Arina Puzriakova commented on gene: ATP5G3
Mitochondrial disorder with complex V deficiency v1.8 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v1.7 ATP5A1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5A1.
Tag Q3_22_NHS_review tag was added to gene: ATP5A1.
Mitochondrial disorder with complex V deficiency v1.7 ATP5F1 Arina Puzriakova Classified gene: ATP5F1 as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v1.7 ATP5F1 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Mitochondrial disorder with complex V deficiency v1.7 ATP5F1 Arina Puzriakova Gene: atp5f1 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v1.6 ATP5H Arina Puzriakova Classified gene: ATP5H as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v1.6 ATP5H Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Mitochondrial disorder with complex V deficiency v1.6 ATP5H Arina Puzriakova Gene: atp5h has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v1.5 ATP5L Arina Puzriakova Classified gene: ATP5L as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v1.5 ATP5L Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Mitochondrial disorder with complex V deficiency v1.5 ATP5L Arina Puzriakova Gene: atp5l has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v1.4 ATP5L2 Arina Puzriakova Classified gene: ATP5L2 as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v1.4 ATP5L2 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Mitochondrial disorder with complex V deficiency v1.4 ATP5L2 Arina Puzriakova Gene: atp5l2 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v1.3 Sarah Leigh Panel version has been signed off
Mitochondrial disorder with complex V deficiency v1.0 ATP5A1 Sarah Leigh reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex V deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex V deficiency v0.27 Ellen McDonagh List of related panels changed from to R357
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex V deficiency v0.26 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Mitochondrial disorder with complex V deficiency v0.25 ATPAF1 Ellen McDonagh Marked gene: ATPAF1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATPAF1 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 V deficiency v0.25 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5O 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 V deficiency v0.25 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5L2 Ellen McDonagh Marked gene: ATP5L2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5L2 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 V deficiency v0.25 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5L Ellen McDonagh Marked gene: ATP5L as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5L 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 V deficiency v0.25 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Marked gene: ATP5J2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 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 V deficiency v0.25 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J Ellen McDonagh Marked gene: ATP5J as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J 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 V deficiency v0.25 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5I Ellen McDonagh Marked gene: ATP5I as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5I 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 V deficiency v0.25 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5H Ellen McDonagh Marked gene: ATP5H as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5H 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 V deficiency v0.25 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G3 Ellen McDonagh Marked gene: ATP5G3 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G3 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 V deficiency v0.25 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G2 Ellen McDonagh Marked gene: ATP5G2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G2 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 V deficiency v0.25 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G1 Ellen McDonagh Marked gene: ATP5G1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G1 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 V deficiency v0.25 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5F1 Ellen McDonagh Marked gene: ATP5F1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5F1 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 V deficiency v0.25 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5E Ellen McDonagh Marked gene: ATP5E as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5E 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 V deficiency v0.25 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5D Ellen McDonagh Classified gene: ATP5D as Green List (high evidence)
Mitochondrial disorder with complex V deficiency v0.25 ATP5D 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 V deficiency v0.25 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disorder with complex V deficiency v0.24 ATP5D Ellen McDonagh Publications for gene: ATP5D were set to
Mitochondrial disorder with complex V deficiency v0.23 ATP5C1 Ellen McDonagh Marked gene: ATP5C1 as ready
Mitochondrial disorder with complex V deficiency v0.23 ATP5C1 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 V deficiency v0.23 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Mitochondrial disorder with complex V deficiency v0.23 ATP5B 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 V deficiency v0.23 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.23 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to
Mitochondrial disorder with complex V deficiency v0.22 ATPAF1 Carl Fratter reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5L2 Carl Fratter reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5L Carl Fratter reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5J2 Carl Fratter reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5J Carl Fratter reviewed gene: ATP5J: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5I Carl Fratter reviewed gene: ATP5I: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5H Carl Fratter reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G3 Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G2 Carl Fratter reviewed gene: ATP5G2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G1 Carl Fratter reviewed gene: ATP5G1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5F1 Carl Fratter reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5E Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.22 ATP5D Carl Fratter reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.22 ATP5C1 Carl Fratter reviewed gene: ATP5C1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5A1 Carl Fratter reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23596069, 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 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 V deficiency v0.21 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.20 ATP5O 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 V deficiency v0.20 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.19 ATP5J 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 V deficiency v0.19 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.18 ATP5I 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 V deficiency v0.18 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 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 V deficiency v0.17 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.16 ATP5L 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 V deficiency v0.16 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 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 V deficiency v0.15 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.14 ATP5H 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 V deficiency v0.14 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 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 V deficiency v0.13 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 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 V deficiency v0.12 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 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 V deficiency v0.11 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.10 ATP5E 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 V deficiency v0.10 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 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 V deficiency v0.9 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.8 ATP5D 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 V deficiency v0.8 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 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 V deficiency v0.7 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.6 ATP5B 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 V deficiency v0.6 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 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 V deficiency v0.5 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong commented on gene: ATP5O: ATP5O has a new gene name: ATP5PO
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong commented on gene: ATP5L2: ATP5L2 has a new gene name: ATP5MGL
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5L2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong Tag new-gene-name tag was added to gene: ATP5L.
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong commented on gene: ATP5L: ATP5L has a new gene name: ATP5MG
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5J2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong commented on gene: ATP5J2: ATP5J2 has a new gene name: ATP5MF
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong Tag new-gene-name tag was added to gene: ATP5J.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong commented on gene: ATP5J: ATP5J has a new gene name: ATP5PF
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong Tag new-gene-name tag was added to gene: ATP5I.
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong commented on gene: ATP5I: ATP5I has a new gene name: ATP5ME
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong Tag new-gene-name tag was added to gene: ATP5H.
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong commented on gene: ATP5H: ATP5H has a new gene name: ATP5PD
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong commented on gene: ATP5G3: ATP5G3 has a new gene name: ATP5MC3
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong commented on gene: ATP5G2: ATP5G2 has a new gene name: ATP5MC2
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong commented on gene: ATP5G1: ATP5G1 has a new gene name: ATP5MC1
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5F1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong commented on gene: ATP5F1: ATP5F1 has a new gene name: ATP5PB
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong Tag new-gene-name tag was added to gene: ATP5E.
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong commented on gene: ATP5E: ATP5E has a new gene name: ATP5F1E
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5C1.
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong Tag new-gene-name tag was added to gene: ATP5D.
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong commented on gene: ATP5D: ATP5D has a new gene name: ATPF1D
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong commented on gene: ATP5C1: ATP5C1 has a new gene name: ATPF1C
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong commented on gene: ATP5B: ATP5B has a new gene name: ATPF1B
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong commented on gene: ATP5A1: ATP5A1 has a new gene name: ATPF1A
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5A1.
Mitochondrial disorder with complex V deficiency v0.3 TMEM70 Ivone Leong reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATPAF2 Ivone Leong reviewed gene: ATPAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATPAF1 Ivone Leong reviewed gene: ATPAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong reviewed gene: ATP5J: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5H Ivone Leong reviewed gene: ATP5H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5F1 Ivone Leong reviewed gene: ATP5F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5L2 Ivone Leong reviewed gene: ATP5L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5L Ivone Leong reviewed gene: ATP5L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong reviewed gene: ATP5J2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5I Ivone Leong reviewed gene: ATP5I: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G3 Ivone Leong reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G2 Ivone Leong reviewed gene: ATP5G2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5G1 Ivone Leong reviewed gene: ATP5G1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5E Ivone Leong reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.3 ATP5C1 Ivone Leong reviewed gene: ATP5C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong reviewed gene: ATP5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5A1 Ivone Leong reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.2 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Mitochondrial disorder with complex V deficiency v0.2 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Mitochondrial disorder with complex V deficiency v0.2 ATPAF1 Ivone Leong gene: ATPAF1 was added
gene: ATPAF1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5J Ivone Leong gene: ATP5J was added
gene: ATP5J was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5H Ivone Leong gene: ATP5H was added
gene: ATP5H was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5F1 Ivone Leong gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5L2 Ivone Leong gene: ATP5L2 was added
gene: ATP5L2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5L Ivone Leong gene: ATP5L was added
gene: ATP5L was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5J2 Ivone Leong gene: ATP5J2 was added
gene: ATP5J2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5I Ivone Leong gene: ATP5I was added
gene: ATP5I was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5I was set to Unknown
Phenotypes for gene: ATP5I were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G3 Ivone Leong gene: ATP5G3 was added
gene: ATP5G3 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G2 Ivone Leong gene: ATP5G2 was added
gene: ATP5G2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G2 was set to Unknown
Phenotypes for gene: ATP5G2 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5G1 Ivone Leong gene: ATP5G1 was added
gene: ATP5G1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G1 was set to Unknown
Phenotypes for gene: ATP5G1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5E Ivone Leong gene: ATP5E was added
gene: ATP5E was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Mitochondrial disorder with complex V deficiency v0.2 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Mitochondrial disorder with complex V deficiency v0.2 ATP5C1 Ivone Leong gene: ATP5C1 was added
gene: ATP5C1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5C1 was set to Unknown
Phenotypes for gene: ATP5C1 were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5A1 Ivone Leong gene: ATP5A1 was added
gene: ATP5A1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Mitochondrial disorder with complex V deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex V deficiency
Set panel types to: GMS Rare Disease