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| Cardiac arrhythmias - additional genes v3.1 | Arina Puzriakova Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v3.0 | Arina Puzriakova promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.5 | ANK2 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ANK2. Tag Q3_22_expert_review was removed from gene: ANK2. |
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| Cardiac arrhythmias - additional genes v2.5 | GNB5 | Arina Puzriakova Tag Q4_21_rating was removed from gene: GNB5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.5 | GNB5 |
Arina Puzriakova Source Expert Review Green was added to GNB5. Source NHS GMS was added to GNB5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cardiac arrhythmias - additional genes v2.5 | ANK2 |
Arina Puzriakova Source Expert Review Red was added to ANK2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Cardiac arrhythmias - additional genes v2.4 | GNB5 | Arina Puzriakova commented on gene: GNB5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.4 | ANK2 | Arina Puzriakova reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.3 | MLIP | Achchuthan Shanmugasundram edited their review of gene: MLIP: Changed phenotypes to: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138, Arrhythmia, HP:0011675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.3 | MLIP | Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from Arrhythmia, HP:0011675 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Arrhythmia, HP:0011675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.2 | MLIP |
Achchuthan Shanmugasundram gene: MLIP was added gene: MLIP was added to Cardiac arrhythmias - additional genes. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254 Phenotypes for gene: MLIP were set to Arrhythmia, HP:0011675 Review for gene: MLIP was set to RED Added comment: Comment on classification of this gene: The rating for this gene should be added as RED, as the implication of this gene in cardiac arrhythmias was identified from biallelic variants from only one family (despite a mild ventricular dysfunction in another unrelated individual). However, this is well supported by results from functional studies from human tissue samples and mouse models. Five individuals from two different pedigrees carrying two different novel homozygous nonsense variants were reported with myopathy characterized by hyperCKemia and with absence of rhabdomyolysis. The age of onset of symptoms for the single patient from family 1 is 2.5 years. All four individuals (age ranges from 24 to 37) from family 2 (Amish ancestry) were reported either with Sinus arrhythmia or Sinus bradycardia and one of these individuals displayed left ventricular hypertrophy. It was also found that there is founder effect for this allele in the Amish population in the resident county of these individuals (PMID:34935254). Seven patients from six families carrying six different biallelic (either homozygous or compound heterozygous) variants in MLIP gene were presented with a consistent phenotype including mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase (CK) levels. The age of onset of symptoms ranged from 8 months to 7 years. However, mild left ventricular dysfunction was reported only in one patient, despite the presence of mild structural abnormalities in two other patients (PMID:34581780). The expression of MLIP was identified to be reduced in patients with dilated cardiomyopathy, as studied from LV samples from patients with terminal-stage heart failure. In addition, deletion of MLIP gene accelerated progress from hypertrophy to heart failure in several cardiomyopathy models and overexpression prevented pathologic remodelling and preserved cardiac function (PMID:26436652). MLIP has also been identified as a regulator of myoblast differentiation (PMID:33802236) and myonuclear positioning (PMID:32719146). Sources: Literature |
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| Cardiac arrhythmias - additional genes v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.15 | ANK2 |
Eleanor Williams Tag Q3_21_expert_review was removed from gene: ANK2. Tag Q3_22_rating tag was added to gene: ANK2. Tag Q3_22_expert_review tag was added to gene: ANK2. |
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| Cardiac arrhythmias - additional genes v1.15 | TANGO2 | Ivone Leong Tag for-review was removed from gene: TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.15 | TANGO2 | Ivone Leong commented on gene: TANGO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Classified gene: GNB5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated families with cardiac arrhythmia identified, which may be the main presenting feature. This also may be the most likely route for testing in some cases, particularly where no seizures and only mild cognitive impairment are observed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.14 | GNB5 | Arina Puzriakova Gene: gnb5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.13 | GNB5 |
Arina Puzriakova gene: GNB5 was added gene: GNB5 was added to Cardiac arrhythmias - additional genes. Sources: Literature Q4_21_rating tags were added to gene: GNB5. Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599; 28697420; 29368331; 33172956 Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 Review for gene: GNB5 was set to GREEN Added comment: Biallelic GNB5 pathogenic variants cause two relevant phenotypes: intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182). Heart rate disturbances (in most cases reminiscent of sick sinus syndrome) have been reported as a feature of both disorders. At least 8 unrelated families with arrhythmias associated with variants in this gene reported in literature. Cardiac involvement supported by animal model studies. Sources: Literature |
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| Cardiac arrhythmias - additional genes v1.12 | ANK2 | Ivone Leong Tag Q3_21_expert_review tag was added to gene: ANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.12 | ANK2 | Ivone Leong Publications for gene: ANK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.11 | ANK2 | Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 4, MIM# 600919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.11 | TANGO2 | Arina Puzriakova Classified gene: TANGO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.11 | TANGO2 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.11 | TANGO2 | Arina Puzriakova Gene: tango2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.10 | TANGO2 | Arina Puzriakova Tag for-review tag was added to gene: TANGO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.10 | TANGO2 | Sarah Leigh Classified gene: TANGO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.10 | TANGO2 | Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.9 | TANGO2 |
Sarah Leigh gene: TANGO2 was added gene: TANGO2 was added to Cardiac arrhythmias - additional genes. Sources: Expert Review Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 30245509 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Review for gene: TANGO2 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 14 unrelated cases, with arrhythmias in 8 unrelated cases. Gene suggested by Rowenna Roberts, Clinical Scientist. Sources: Expert Review |
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| Cardiac arrhythmias - additional genes v1.7 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.4 | Catherine Snow Panel types changed to Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.2 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v0.3 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v0.2 | ANK2 | Ivone Leong Classified gene: ANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v0.2 | ANK2 | Ivone Leong Gene: ank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v0.1 | ANK2 |
Ivone Leong gene: ANK2 was added gene: ANK2 was added to Cardiac arrhythmias - additional genes. Sources: NHS GMS Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANK2 were set to Long QT syndrome 4, 600919; Cardiac arrhythmia, ankyrin-B-related, 600919 Review for gene: ANK2 was set to GREEN Added comment: Sources: NHS GMS |
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| Cardiac arrhythmias - additional genes v0.0 |
Ivone Leong Added Panel Cardiac arrhythmias - additional genes Set panel types to: GMS Rare Disease; Component Of Super Panel |
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