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Hypertrophic cardiomyopathy v5.22 MT-TL1 Arina Puzriakova commented on gene: MT-TL1
Hypertrophic cardiomyopathy v5.20 MT-TL1 Arina Puzriakova Classified gene: MT-TL1 as No list
Hypertrophic cardiomyopathy v5.20 MT-TL1 Arina Puzriakova Gene: mt-tl1 has been removed from the panel.
Hypertrophic cardiomyopathy v5.19 MT-TL1 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MT-TL1.
Tag Q2_25_expert_review was removed from gene: MT-TL1.
Tag Q2_25_ NHS_review was removed from gene: MT-TL1.
Tag curated_removed tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1.
Tag Q2_25_expert_review tag was added to gene: MT-TL1.
Tag Q2_25_ NHS_review tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.; to: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, the rating should remain amber on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.; to: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.5 MT-TL1 Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, the rating should remain amber on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy (HCM), or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient. ; to: As per https://www.mitophen.org, there are more than ten different patients reported in peer-reviewed scientific literature with m.3243A>G variant and with hypertrophic cardiomyopathy (HCM) as one of the presenting phenotypes

PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, HCM, or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 7473662, 8477849, 12874464, 14673589, 25639022, 30888501, 30133155; Changed phenotypes to: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy (HCM) as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.; to: PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy (HCM), or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 7473662, 12874464, 14673589, 25639022, 30888501
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and hypertrophic cardiomyopathy.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with hypertrophic cardiomyopathy among several clinical manifestations.; to: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy (HCM) as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 12874464, 14673589, 25639022, 30888501
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12874464, 14673589, 25639022; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.3 MT-TL1 Katherine Schon reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22513320, 31403078, 23355809; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v4.13 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v1.53 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No phenotype
Hypertrophic cardiomyopathy v1.52 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No evidence
Hypertrophic cardiomyopathy v1.51 MT-TL1 Rebecca Whittington reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.45 MT-TL1 Ellen McDonagh Source South West GLH was added to MT-TL1.
Hypertrophic cardiomyopathy v1.23 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Expert Review
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Added comment: This gene was suggested by Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan) to be added to this panel. Comments from Dr Atsuko Okazaki: "Among our ~2000 patients, certain numbers of hypertrophic cardiomyopathy patients have m.3243A>G mutation in MT-TL1 with high heteroplasty rate in the heart. Although reporting mitochondrial DNA mutations with their pathogenicity is always challenging due to the heteroplasty rate in affected organs, I think it might be one possibility to let clinicians know that m.3243A>G is a causative mutation for hypertrophic cardiomyopathy if mutation rate is high in the heart."
Sources: Expert Review