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Paediatric or syndromic cardiomyopathy v7.96 MYL2 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MYL2.
Paediatric or syndromic cardiomyopathy v7.96 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to 23365102; 31127036; 32453731; 33731536
Paediatric or syndromic cardiomyopathy v7.95 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to
Paediatric or syndromic cardiomyopathy v7.94 MYL2 Ida Ertmanska Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424; Cardiomyopathy, hypertrophic, 10, OMIM:608758
Paediatric or syndromic cardiomyopathy v7.93 MYL2 Ida Ertmanska commented on gene: MYL2: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and a fatal infantile-onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Paediatric or syndromic cardiomyopathy v7.93 MYL2 Ida Ertmanska reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 31127036, 32453731, 33731536; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424, Cardiomyopathy, hypertrophic, 10, OMIM:608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.93 RPL3L Matthew Edwards changed review comment from: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early; to: functional data is limited, but good genetic evidence (see papers above), ClinGen DCM expert panl group ahve recently rated as moderate gene for DCM, and onset is early
Paediatric or syndromic cardiomyopathy v7.93 RPL3L Matthew Edwards reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 8921388, 32870709, 35323613, 32514796, 36291431, 37308880; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v7.93 NAA15 Matthew Edwards reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v7.92 BRAF Eleanor Williams Tag Q1_26_NHS_review tag was added to gene: BRAF.
Paediatric or syndromic cardiomyopathy v7.92 BRAF Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: BRAF.
Paediatric or syndromic cardiomyopathy v7.92 BRAF Ida Ertmanska reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206169; Phenotypes: Cardiofaciocutaneous syndrome, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v7.92 GATA6 Ida Ertmanska commented on gene: GATA6
Paediatric or syndromic cardiomyopathy v7.92 SGCD Ida Ertmanska commented on gene: SGCD
Paediatric or syndromic cardiomyopathy v7.92 ATAD3A Matthew Edwards reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33575671, 39472908; Phenotypes: perinatal mitochondrial cardiac failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v7.92 BRAF Matthew Edwards reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v7.92 MT-ND5 Achchuthan Shanmugasundram changed review comment from: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating to this panel.; to: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating on this panel.
Paediatric or syndromic cardiomyopathy v7.92 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

Expert review is being sought from the Genomic Medicine Service on whether this gene can be promoted to the next major version.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

Expert opinion is sought from the Genomic Medicine Service on the inclusion of this gene on this panel with green raring in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.92 MT-TV Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: MT-TV.
Paediatric or syndromic cardiomyopathy v7.92 MT-TV Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in at least three unrelated patients with variants in MT-TV gene. This gene can therefore be promoted to green rating on the next GMS update.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in at least three unrelated patients with variants in MT-TV gene.

Expert opinion is sought from the Genomic Medicine Service on the inclusion of this gene on this panel with green raring in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.92 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: MT-TL1.
Paediatric or syndromic cardiomyopathy v7.92 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

This gene can therefore be promoted to green rating on the next GMS update.; to: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

Expert review is being sought from the Genomic Medicine Service on whether this gene can be promoted to the next major version.
Paediatric or syndromic cardiomyopathy v7.92 MT-ND5 Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: MT-ND5.
Tag Q3_25_NHS_review tag was added to gene: MT-ND5.
Paediatric or syndromic cardiomyopathy v7.92 MT-ND5 Achchuthan Shanmugasundram changed review comment from: After consultation with the clinical tea, this gene is tagged for expert review by the GLHs on the inclusion of this gene with green rating to this panel.; to: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating to this panel.
Paediatric or syndromic cardiomyopathy v7.92 MT-ND5 Achchuthan Shanmugasundram commented on gene: MT-ND5: After consultation with the clinical tea, this gene is tagged for expert review by the GLHs on the inclusion of this gene with green rating to this panel.
Paediatric or syndromic cardiomyopathy v7.92 PLD1 Arina Puzriakova edited their review of gene: PLD1: Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v7.92 PLD1 Arina Puzriakova changed review comment from: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.; to: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy, so this gene should remain amber on this panel.
Paediatric or syndromic cardiomyopathy v7.92 PLD1 Arina Puzriakova changed review comment from: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there may be another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.; to: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.
Paediatric or syndromic cardiomyopathy v7.92 PLD1 Arina Puzriakova changed review comment from: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there may be another case of cardiomyopathy linked to this gene. However, the article is in Chinese and therefore cannot be curated.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.; to: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there may be another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.
Paediatric or syndromic cardiomyopathy v7.92 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 27799408; 33645542; 39472908
Paediatric or syndromic cardiomyopathy v7.91 PLD1 Arina Puzriakova commented on gene: PLD1: Title of PMID: 39681445 - 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there may be another case of cardiomyopathy linked to this gene. However, the article is in Chinese and therefore cannot be curated.

As already highlighted in previous reviews, the presenting phenotype in most cases is valvular defects rather than cardiomyopathy.
Paediatric or syndromic cardiomyopathy v7.91 MT-ND5 Achchuthan Shanmugasundram changed review comment from: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations.

PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids.

PMID:23847141 - This study analysed the while mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features.

PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene.; to: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations.

PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids.

PMID:23847141 - This study analysed the mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features.

PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene.
Paediatric or syndromic cardiomyopathy v7.91 RPL3L Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: RPL3L.
Tag Q3_25_promote_green tag was added to gene: RPL3L.
Tag Q3_25_expert_review tag was added to gene: RPL3L.
Paediatric or syndromic cardiomyopathy v7.91 RPL3L Arina Puzriakova Publications for gene: RPL3L were set to 32514796; 32870709
Paediatric or syndromic cardiomyopathy v7.90 RPL3L Arina Puzriakova Classified gene: RPL3L as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.90 RPL3L Arina Puzriakova Added comment: Comment on list classification: There are now at least 14 individuals from 11 families with severe early-onset dilated cardiomyopathy. Almost all attributed to compound heterozygous missense variants (also 3 frameshift and 1 splice-site) but the underlying mechanism remains poorly understood. Notably, RPL3L knockout in mice did not result in any severe heart defects. (PMID: 32514796; 32870709; 36291431; 35323613; 37308880; 39803500; 40820268)

The number of cases reported supports inclusion on this panel as Green, but given that mouse models are conflicting and this addition was rejected in a previous GMS panel release, tagging for additional GMS expert review to determine the appropriate rating.
Paediatric or syndromic cardiomyopathy v7.90 RPL3L Arina Puzriakova Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.89 RPL3L Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a phenotype listed in OMIM: Cardiomyopathy, dilated, 2D, OMIM:619371 (accessed on 09-10-2025)
Paediatric or syndromic cardiomyopathy v7.89 RPL3L Arina Puzriakova Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021 to Cardiomyopathy, dilated, 2D, OMIM:619371
Paediatric or syndromic cardiomyopathy v7.88 DST Eleanor Williams Classified gene: DST as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.88 DST Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review.
Paediatric or syndromic cardiomyopathy v7.88 DST Eleanor Williams Gene: dst has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.87 DST Eleanor Williams gene: DST was added
gene: DST was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Q3_25_promote_green tags were added to gene: DST.
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 40497796; 35942699
Phenotypes for gene: DST were set to arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
Review for gene: DST was set to GREEN
Added comment: Associated with Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency (615425) and Neuropathy, hereditary sensory and autonomic, type VI (614653) in OMIM caused by a loss of DST-e and DST-a respectively. However, variants in the DTS-b isoform appear to result in a different phenotype.

PMID: 40497796 (2025) - biallelic variants in the DST impacting the DST-b isoform were identified in in 19 individuals from 14 unrelated families of different ethnicities by exome or genome sequencing or Sanger sequencing of affected siblings. Other likely pathogenic variants were excluded through sequencing analysis in line with ACMG classification guidelines.

8 variants were identified in these 19 patients with variants that only affect the DST-b isoform; 4 nonsense and 4 frameshift. All variants were absent or rare in gnomad. In 13 families the variant was homozygous and in 1 it was compound heterozygous.

Prenatal abnormalities were documented in 7/15 cases (reduced fetal movements and joint contractures). Of the 16 individuals assessed post birth, all displayed contractures at birth, 10/14 (from 9 families) displayed cardiomyopathy (9 with dilated cardiomyopathy), 14/14 (from 12 families) motor delay and 15/15 (from 12 families) muscular hypotonia.

RNA sequencing from control individuals showed that transcripts encoding DST-b isoform are expressed in skeletal muscle, heart tissue, and cultured fibroblasts. RNA sequencing analysis of patient fibroblasts from 3 affected individuals showed reduced DST RNA levels, but only in one case was this statistically signficant. However, proteomic studies with fibroblasts from 2 individuals showed a significant reduction of Dystonin, and a complete loss of the DST-b isoform. The author conclude this indicates that the DST-b transcripts escape NMD but encode a protein that is instable or rapidly degraded.

In addition, biallelic variants affecting both DST-a and DST-b isoforms were identified in 4 individuals from two families by exome sequencing. All presented with severe arthrogryposis and died intrauterine or shortly after birth.

PMID: 35942699 (2022) In a Dst-b-specific mutant mouse model with a nonsense mutation, the mice exhibit late-onset protein aggregate myopathy and cardiomyopathy without neuropathy.
Created: 30 Sep 2025, 5:18 p.m. | Last Modified: 30 Sep 2025, 5:18 p.m.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.86 MT-ND5 Jesse Hayesmoore reviewed gene: MT-ND5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14520659, PMID: 23847141, PMID: 37318682, PMID: 25681084, PMID: 12624137, PMID: 14730434, PMID: 36104228, PMID: 22759514, PMID: 30587702, PMID: 23628297, PMID: 19473338; Phenotypes: Leigh syndrome, LHON, MELAS; Mode of inheritance: MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v7.86 RPL3L Riyaad Aungraheeta reviewed gene: RPL3L: Rating: ; Mode of pathogenicity: Other; Publications: PMID: 40820268; Phenotypes: Neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.86 PKD2 Achchuthan Shanmugasundram Classified gene: PKD2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.86 PKD2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are patients from five unrelated families reported with five different heterozygous PKD2 variants and with cardiomyopathy. Of these, four families were from APKD2 database at Mayo Clinic and one was from the UK 100,000 genomes cohort. There is also functional evidence available from zebrafish and mice model. Hence, this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.86 PKD2 Achchuthan Shanmugasundram Gene: pkd2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.85 PKD2 Achchuthan Shanmugasundram changed review comment from: Autosomal dominant variants in PKD2 gene are associated with Polycystic kidney disease 2 (MIM #613095, OMIM phenotype accessed on 07 September 2025).

Reports on human patients:
PMID:23376035 (2014) examined ADPKD database at Mayo clinic with 2,620 ADPKD patients seen between 1984 and 2010, where 374 patients were genotyped and 67 of them were identified with PKD2 variants. Of these 67, six patients from four different families had a diagnosis of idiopathic dilated cardiomyopathy (IDCM). The identified variants were p.Arg361Ter, p.Arg807Ter, c.423_430del8 and c.1095-5A>G.

PMID:29270497 (2017) reported 3,885 ADPKD patients seen in the period between 1984 and 2015 in the same database as PMID:23376035, of which seven patients from four families had the same PKD2 variants.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with hypertrophic cardiomyopathy was identified with a heterozygous stop-gain variant in PKD2 gene via analysis of data from singleton genome sequencing.

Functional studies:

PMID:23376035 (2014) studied Pkd2 mutant zebrafish, which showed low cardiac output and atrioventricular block. Isolated pkd2 mutant hearts displayed impaired intracellular calcium cycling and calcium alternans. These results indicate heart failure in the pkd2 mutants.

PMID:27081851 (2016) reported that 9-month-old Pkd2+/- mice showed several anatomical features consistent with a dilated cardiac phenotype. However, Pkd2+/- 5-month-old mice did not present with a cardiac phenotype that paralleled either dilated cardiomyopathy or left ventricular hypertrophy, suggesting that PKD2 caused late-onset progressive cardiomyopathy.
Sources: Literature; to: Autosomal dominant variants in PKD2 gene are associated with Polycystic kidney disease 2 (MIM #613095, OMIM phenotype accessed on 07 September 2025).

Reports on human patients:
PMID:23376035 (2014) examined ADPKD database at Mayo clinic with 2,620 ADPKD patients seen between 1984 and 2010, where 374 patients were genotyped and 67 of them were identified with PKD2 variants. Of these 67, six patients from four different families had a diagnosis of idiopathic dilated cardiomyopathy (IDCM). The identified variants were p.Arg361Ter, p.Arg807Ter, c.423_430del8 and c.1095-5A>G.

PMID:29270497 (2017) reported 3,885 ADPKD patients seen in the period between 1984 and 2015 in the same database as PMID:23376035, of which seven patients from four families had the same PKD2 variants.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with hypertrophic cardiomyopathy was identified with a heterozygous stop-gain variant in PKD2 gene (p.Arg213Ter) via analysis of data from singleton genome sequencing.

Functional studies:

PMID:23376035 (2014) studied Pkd2 mutant zebrafish, which showed low cardiac output and atrioventricular block. Isolated pkd2 mutant hearts displayed impaired intracellular calcium cycling and calcium alternans. These results indicate heart failure in the pkd2 mutants.

PMID:27081851 (2016) reported that 9-month-old Pkd2+/- mice showed several anatomical features consistent with a dilated cardiac phenotype. However, Pkd2+/- 5-month-old mice did not present with a cardiac phenotype that paralleled either dilated cardiomyopathy or left ventricular hypertrophy, suggesting that PKD2 caused late-onset progressive cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.85 PKD2 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PKD2.
Paediatric or syndromic cardiomyopathy v7.85 PKD2 Achchuthan Shanmugasundram gene: PKD2 was added
gene: PKD2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 23376035; 27081851; 29270497; 39472908
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2, OMIM:613095; polycystic kidney disease 2, MONDO:0013131; dilated cardiomyopathy, MONDO:0005021
Review for gene: PKD2 was set to GREEN
Added comment: Autosomal dominant variants in PKD2 gene are associated with Polycystic kidney disease 2 (MIM #613095, OMIM phenotype accessed on 07 September 2025).

Reports on human patients:
PMID:23376035 (2014) examined ADPKD database at Mayo clinic with 2,620 ADPKD patients seen between 1984 and 2010, where 374 patients were genotyped and 67 of them were identified with PKD2 variants. Of these 67, six patients from four different families had a diagnosis of idiopathic dilated cardiomyopathy (IDCM). The identified variants were p.Arg361Ter, p.Arg807Ter, c.423_430del8 and c.1095-5A>G.

PMID:29270497 (2017) reported 3,885 ADPKD patients seen in the period between 1984 and 2015 in the same database as PMID:23376035, of which seven patients from four families had the same PKD2 variants.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with hypertrophic cardiomyopathy was identified with a heterozygous stop-gain variant in PKD2 gene via analysis of data from singleton genome sequencing.

Functional studies:

PMID:23376035 (2014) studied Pkd2 mutant zebrafish, which showed low cardiac output and atrioventricular block. Isolated pkd2 mutant hearts displayed impaired intracellular calcium cycling and calcium alternans. These results indicate heart failure in the pkd2 mutants.

PMID:27081851 (2016) reported that 9-month-old Pkd2+/- mice showed several anatomical features consistent with a dilated cardiac phenotype. However, Pkd2+/- 5-month-old mice did not present with a cardiac phenotype that paralleled either dilated cardiomyopathy or left ventricular hypertrophy, suggesting that PKD2 caused late-onset progressive cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.84 SELENON Achchuthan Shanmugasundram Classified gene: SELENON as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.84 SELENON Achchuthan Shanmugasundram Added comment: Comment on list classification: Biallelic SELENON variants cause an early-onset congenital muscular dystrophy characterised by spinal rigidity and respiratory failure, with no significant cardiomyopathy reported. Any observed cardiac abnormalities are secondary to respiratory failure in most of the reported cases. Hence, this gene should be rated red with the current evidence.
Paediatric or syndromic cardiomyopathy v7.84 SELENON Achchuthan Shanmugasundram Gene: selenon has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.83 SELENON Achchuthan Shanmugasundram Publications for gene: SELENON were set to 35868898
Paediatric or syndromic cardiomyopathy v7.82 SELENON Achchuthan Shanmugasundram edited their review of gene: SELENON: Changed publications to: 35868898, 39472908
Paediatric or syndromic cardiomyopathy v7.82 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from to Congenital myopathy 3 with rigid spine, OMIM:602771; rigid spine muscular dystrophy 1, MONDO:0011271
Paediatric or syndromic cardiomyopathy v7.81 SELENON Achchuthan Shanmugasundram changed review comment from: PMID:35868898 (2022) reviewed cases with cardiac involvement in SELENON-related myopathy, where cardiac abnormality was described in 15% of cases (29). The most frequently reported abnormality was pulmonary hypertension (16 patients), of whom eight patients were reported to have right ventricular (RV) dysfunction or increase of RV systolic pressure secondary to respiratory failure and three patients concomitant respiratory insufficiency, of whom two patients died of secondary cardiac failure within several years. Primary left ventricular (LV) dysfunction, including dilated cardiomyopathy (DCM) and decreased LV contractility, was only described in two patients. The first patient had a positive family history for idiopathic cardiomyopathy but not for SELENON-RM, and developed DCM at age of 42 years. No other cause of decreased LV contractility had been documented at paediatric age for the second patient.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with unspecified cardiomyopathy was identified with a homozygous missense variant (p.Gly315Ser) in SELENON gene via analysis of data from singleton genome sequencing.
Sources: Literature; to: PMID:35868898 (2022) reviewed cases with cardiac involvement in SELENON-related myopathy, where cardiac abnormality was described in 15% of cases (29). The most frequently reported abnormality was pulmonary hypertension (16 patients), of whom eight patients were reported to have right ventricular (RV) dysfunction or increase of RV systolic pressure secondary to respiratory failure and three patients concomitant respiratory insufficiency, of whom two patients died of secondary cardiac failure within several years. Primary left ventricular (LV) dysfunction, including dilated cardiomyopathy (DCM) and decreased LV contractility, was only described in two patients. The first patient had a positive family history for idiopathic cardiomyopathy but not for SELENON-RM, and developed DCM at age of 42 years. No other cause of decreased LV contractility had been documented at paediatric age for the second patient.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with unspecified cardiomyopathy was identified with a homozygous missense variant (p.Gly315Ser) in SELENON gene via analysis of data from singleton genome sequencing.

This gene has been associated with Congenital myopathy 3 with rigid spine in OMIM (MIM #602771, OMIM accessed on 06 September 2025) and with SELENON-related myopathy in Gene2Phenotype (with 'definitive' rating).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.81 SELENON Achchuthan Shanmugasundram edited their review of gene: SELENON: Changed phenotypes to: Congenital myopathy 3 with rigid spine, OMIM:602771, rigid spine muscular dystrophy 1, MONDO:0011271
Paediatric or syndromic cardiomyopathy v7.81 SELENON Achchuthan Shanmugasundram gene: SELENON was added
gene: SELENON was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENON were set to 35868898
Review for gene: SELENON was set to RED
Added comment: PMID:35868898 (2022) reviewed cases with cardiac involvement in SELENON-related myopathy, where cardiac abnormality was described in 15% of cases (29). The most frequently reported abnormality was pulmonary hypertension (16 patients), of whom eight patients were reported to have right ventricular (RV) dysfunction or increase of RV systolic pressure secondary to respiratory failure and three patients concomitant respiratory insufficiency, of whom two patients died of secondary cardiac failure within several years. Primary left ventricular (LV) dysfunction, including dilated cardiomyopathy (DCM) and decreased LV contractility, was only described in two patients. The first patient had a positive family history for idiopathic cardiomyopathy but not for SELENON-RM, and developed DCM at age of 42 years. No other cause of decreased LV contractility had been documented at paediatric age for the second patient.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with unspecified cardiomyopathy was identified with a homozygous missense variant (p.Gly315Ser) in SELENON gene via analysis of data from singleton genome sequencing.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.80 ADSSL1 Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.80 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Hypertrophic cardiomyopathy has been reported in a significant proportion of patients with biallelic ADSSL1 variants - 12 patients (25%) in PMID:32646962 and two additional unrelated families. Hence, this gene can be promoted to green rating on this panel in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.80 ADSSL1 Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.79 ADSSL1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ADSSL1.
Paediatric or syndromic cardiomyopathy v7.79 ADSSL1 Achchuthan Shanmugasundram commented on gene: ADSSL1: The 'new-gene-name' tag has been added as the official HGNC gene symbol of ADSSL1 is ADSS1.
Paediatric or syndromic cardiomyopathy v7.79 ADSSL1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: ADSSL1.
Paediatric or syndromic cardiomyopathy v7.79 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 06 September 2025.
Paediatric or syndromic cardiomyopathy v7.79 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045 to Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v7.78 ADSSL1 Achchuthan Shanmugasundram gene: ADSSL1 was added
gene: ADSSL1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to 32646962; 39472908; 40302423
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, OMIM:617030; myopathy, distal, 5, MONDO:0014877; hypertrophic cardiomyopathy, MONDO:0005045
Review for gene: ADSSL1 was set to GREEN
Added comment: PMID:32646962 (2020) reported the identification of 63 patients from 59 families with biallelic variants of ADSSL1. Seven distinct variants were identified in total, of which c.781G>A and c.919delA accounted for 53.2% and 40.5% of alleles, respectively, suggesting the presence of common founders, while the other five were novel. Most of the reported patients presented with variable myopathy with distal and proximal limb muscle weakness (often childhood onset of exercise intolerance) and facial and bulbar involvement were common in them. Left ventricular hypertrophy (LVH) was noted in 12 (25.0%) of 48 patients on EKG or echocardiography. ADSSL1 variants in nine of these patients were identified by WES and 3 were identified by Sanger sequencing. Patient 12 developed progressive heart failure with LVH before the onset of apparent muscle weakness at age 20, and he died due to multiple organ failure at age 25.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult male patient with unspecified cardiomyopathy was identified with a homozygous missense variant (p.Asp261Asn) in ADSSL1 gene via analysis of data from trio genome sequencing.

PMID:40302423 (2025) reported the identification of compound heterozygous pathogenic variants (c.781G>A/c.919delA) in ADSSL1 gene in two siblings with ADSSL1-myopathy. LVH was observed in both siblings and pathologically confirmed in the case where autopsy was done.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.77 GLA Achchuthan Shanmugasundram Classified gene: GLA as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.77 GLA Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of GLA variants with hypertrophic cardiomyopathy as part of the Fabry disease phenotype, this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.77 GLA Achchuthan Shanmugasundram Gene: gla has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.76 GLA Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: GLA.
Paediatric or syndromic cardiomyopathy v7.76 GLA Achchuthan Shanmugasundram Phenotypes for gene: GLA were changed from Fabry disease, 301500; HCM is a late complication in adults, also found in female carriers; Limb pain, angiokeratom; syndromic HCM; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry Disease; Fabry disease; HCM to Fabry disease, OMIM:301500; Fabry disease, cardiac variant, OMIM:301500; Fabry disease, MONDO:0010526
Paediatric or syndromic cardiomyopathy v7.75 GLA Achchuthan Shanmugasundram Publications for gene: GLA were set to 27604308
Paediatric or syndromic cardiomyopathy v7.74 GLA Achchuthan Shanmugasundram reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 39472908, 39620496, 39995634; Phenotypes: Fabry disease, OMIM:301500, Fabry disease, cardiac variant, OMIM:301500, Fabry disease, MONDO:0010526; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric or syndromic cardiomyopathy v7.74 TANGO2 Achchuthan Shanmugasundram Publications for gene: TANGO2 were set to 26805781; 30245509; 31339582; 32527145; 35568137; 40156300
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram edited their review of gene: TANGO2: Changed publications to: 26805781, 30245509, 31339582, 32527145, 35568137, 39472908, 40156300
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram changed review comment from: PMID:26805781 (2016) reported the identification of biallelic variants (a missense variant and two different intragenic deletions) in 12 patients from nine unrelated families with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. Hypertrophic cardiomyopathy was reported in a patient from a family with three affected patients (with homozygous exons 3-9 deletion).

PMID:30245509 (2018) reported the identification of biallelic TANGO2 variants (five different variants including the previously described exon 3-9 intragenic deletion in either homozygous or compound heterozygous states) in 14 individuals from 11 unrelated families with a complex clinical phenotype including primarily neurological presentations. Dilated cardiomyopathy was reported in two patients from a family (compound heterozygous for p.Arg32Ter & p.Arg26Lys variants) and left ventricular hypertrophy was reported in one of three patients from family 1 (with 3C>G and exons-3-9 deletion).

PMID:31339582 (2020) reported nine patients from seven unrelated families with biallelic TANGO2 variants (exons 3-9 deletion and small variants). One unrelated patient (subject 5) that harboured a hemizygous deletion of exons 3-9 (second variant was not identified) was reported with hypertrophic cardiomyopathy.

PMID:32527145 (2020) reported a 6-year-old female patient atypical cardiomyopathy, who was identified to harbour a hemizygous deletion of exons 3-9 in the TANGO2 gene via next-generation sequencing.

PMID:35568137 (2022) conducted a retrospective multicentre chart review of TANGO2 deficiency disorder patients admitted with cardiac crises, where 27 children were admitted for 43 cardiac crises at 14 centres. These patients were reported with either homozygous or compound heterozygous variants including small variants and intragenic deletions in TANGO2 gene. Arrhythmias included ventricular tachycardia in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest.

PMID:40156300 (2025) reported two unrelated patients with biallelic TANGO2 pathogenic variants (homozygous deletion of exons 4-6 in one and c.605+1G>A in the other). Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy.
Sources: Literature; to: PMID:26805781 (2016) reported the identification of biallelic variants (a missense variant and two different intragenic deletions) in 12 patients from nine unrelated families with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. Hypertrophic cardiomyopathy was reported in a patient from a family with three affected patients (with homozygous exons 3-9 deletion).

PMID:30245509 (2018) reported the identification of biallelic TANGO2 variants (five different variants including the previously described exon 3-9 intragenic deletion in either homozygous or compound heterozygous states) in 14 individuals from 11 unrelated families with a complex clinical phenotype including primarily neurological presentations. Dilated cardiomyopathy was reported in two patients from a family (compound heterozygous for p.Arg32Ter & p.Arg26Lys variants) and left ventricular hypertrophy was reported in one of three patients from family 1 (with 3C>G and exons-3-9 deletion).

PMID:31339582 (2020) reported nine patients from seven unrelated families with biallelic TANGO2 variants (exons 3-9 deletion and small variants). One unrelated patient (subject 5) that harboured a hemizygous deletion of exons 3-9 (second variant was not identified) was reported with hypertrophic cardiomyopathy.

PMID:32527145 (2020) reported a 6-year-old female patient atypical cardiomyopathy, who was identified to harbour a hemizygous deletion of exons 3-9 in the TANGO2 gene via next-generation sequencing.

PMID:35568137 (2022) conducted a retrospective multicentre chart review of TANGO2 deficiency disorder patients admitted with cardiac crises, where 27 children were admitted for 43 cardiac crises at 14 centres. These patients were reported with either homozygous or compound heterozygous variants including small variants and intragenic deletions in TANGO2 gene. Arrhythmias included ventricular tachycardia in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one adult patient with unspecified cardiomyopathy was identified with an intragenic homozygous deletion in TANGO2 gene via analysis of data from trio genome sequencing.

PMID:40156300 (2025) reported two unrelated patients with biallelic TANGO2 pathogenic variants (homozygous deletion of exons 4-6 in one and c.605+1G>A in the other). Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram changed review comment from: PMID:26805781 (2016) reported the identification of biallelic variants (a missense variant and two different intragenic deletions) in 12 patients from nine unrelated families with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. Hypertrophic cardiomyopathy was reported in a patient from a family with three affected patients (with homozygous exons 3-9 deletion).

PMID:30245509 (2018) reported the identification of biallelic TANGO2 variants (five different variants including the previously described exon 3-9 intragenic deletion in either homozygous or compound heterozygous states) in 14 individuals from 11 unrelated families with a complex clinical phenotype including primarily neurological presentations. Dilated cardiomyopathy was reported in two patients from a family (compound heterozygous for p.Arg32Ter & p.Arg26Lys variants) and left ventricular hypertrophy was reported in one of three patients from family 1 (with 3C>G and exons-3-9 deletion).

PMID:31339582 (2020) reported nine patients from seven unrelated families with biallelic TANGO2 variants (exons 3-9 deletion and small variants). One unrelated patient (subject 5) that harboured a hemizygous deletion of exons 3-9 (second variant was not identified) was reported with hypertrophic cardiomyopathy.

PMID:32527145 (2020) reported a 6-year-old female patient atypical cardiomyopathy, who was identified to harbour a hemizygous deletion of exons 3-9 in the TANGO2 gene via next-generation sequencing.

PMID:35568137 (2022) conducted a retrospective multicentre chart review of TANGO2 deficiency disorder patients admitted with cardiac crises, where 27 children were admitted for 43 cardiac crises at 14 centres. Arrhythmias included ventricular tachycardia in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest.

PMID:40156300 (2025) reported two unrelated patients with biallelic TANGO2 pathogenic variants (homozygous deletion of exons 4-6 in one and c.605+1G>A in the other). Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy.
Sources: Literature; to: PMID:26805781 (2016) reported the identification of biallelic variants (a missense variant and two different intragenic deletions) in 12 patients from nine unrelated families with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. Hypertrophic cardiomyopathy was reported in a patient from a family with three affected patients (with homozygous exons 3-9 deletion).

PMID:30245509 (2018) reported the identification of biallelic TANGO2 variants (five different variants including the previously described exon 3-9 intragenic deletion in either homozygous or compound heterozygous states) in 14 individuals from 11 unrelated families with a complex clinical phenotype including primarily neurological presentations. Dilated cardiomyopathy was reported in two patients from a family (compound heterozygous for p.Arg32Ter & p.Arg26Lys variants) and left ventricular hypertrophy was reported in one of three patients from family 1 (with 3C>G and exons-3-9 deletion).

PMID:31339582 (2020) reported nine patients from seven unrelated families with biallelic TANGO2 variants (exons 3-9 deletion and small variants). One unrelated patient (subject 5) that harboured a hemizygous deletion of exons 3-9 (second variant was not identified) was reported with hypertrophic cardiomyopathy.

PMID:32527145 (2020) reported a 6-year-old female patient atypical cardiomyopathy, who was identified to harbour a hemizygous deletion of exons 3-9 in the TANGO2 gene via next-generation sequencing.

PMID:35568137 (2022) conducted a retrospective multicentre chart review of TANGO2 deficiency disorder patients admitted with cardiac crises, where 27 children were admitted for 43 cardiac crises at 14 centres. These patients were reported with either homozygous or compound heterozygous variants including small variants and intragenic deletions in TANGO2 gene. Arrhythmias included ventricular tachycardia in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest.

PMID:40156300 (2025) reported two unrelated patients with biallelic TANGO2 pathogenic variants (homozygous deletion of exons 4-6 in one and c.605+1G>A in the other). Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: TANGO2.
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram Classified gene: TANGO2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although cardiomyopathy was reported only in a very small proportion of patients with biallelic TANGO2 variants from earlier studies, 19 patients (70%) from the multi-centre study from PMID:35568137 and both unrelated patients from PMID:4015630 were reported with cardiomyopathy.

As there are over 20 patients reported with cardiomyopathy, this gene can be promoted to green rating on this panel in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.73 TANGO2 Achchuthan Shanmugasundram Gene: tango2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.72 TANGO2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #616878, accessed on 05 September 2025) and Gene2Phenotype (TANGO2-related infancy-onset recurrent metabolic crises with encephalocardiomyopathy with 'definitive' rating on the DD panel).
Paediatric or syndromic cardiomyopathy v7.72 TANGO2 Achchuthan Shanmugasundram Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878; recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878; recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820
Paediatric or syndromic cardiomyopathy v7.71 TANGO2 Achchuthan Shanmugasundram gene: TANGO2 was added
gene: TANGO2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805781; 30245509; 31339582; 32527145; 35568137; 40156300
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878; recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820
Review for gene: TANGO2 was set to GREEN
Added comment: PMID:26805781 (2016) reported the identification of biallelic variants (a missense variant and two different intragenic deletions) in 12 patients from nine unrelated families with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. Hypertrophic cardiomyopathy was reported in a patient from a family with three affected patients (with homozygous exons 3-9 deletion).

PMID:30245509 (2018) reported the identification of biallelic TANGO2 variants (five different variants including the previously described exon 3-9 intragenic deletion in either homozygous or compound heterozygous states) in 14 individuals from 11 unrelated families with a complex clinical phenotype including primarily neurological presentations. Dilated cardiomyopathy was reported in two patients from a family (compound heterozygous for p.Arg32Ter & p.Arg26Lys variants) and left ventricular hypertrophy was reported in one of three patients from family 1 (with 3C>G and exons-3-9 deletion).

PMID:31339582 (2020) reported nine patients from seven unrelated families with biallelic TANGO2 variants (exons 3-9 deletion and small variants). One unrelated patient (subject 5) that harboured a hemizygous deletion of exons 3-9 (second variant was not identified) was reported with hypertrophic cardiomyopathy.

PMID:32527145 (2020) reported a 6-year-old female patient atypical cardiomyopathy, who was identified to harbour a hemizygous deletion of exons 3-9 in the TANGO2 gene via next-generation sequencing.

PMID:35568137 (2022) conducted a retrospective multicentre chart review of TANGO2 deficiency disorder patients admitted with cardiac crises, where 27 children were admitted for 43 cardiac crises at 14 centres. Arrhythmias included ventricular tachycardia in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest.

PMID:40156300 (2025) reported two unrelated patients with biallelic TANGO2 pathogenic variants (homozygous deletion of exons 4-6 in one and c.605+1G>A in the other). Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.70 ATAD3A Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ATAD3A.
Paediatric or syndromic cardiomyopathy v7.70 ATAD3A Achchuthan Shanmugasundram Classified gene: ATAD3A as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.70 ATAD3A Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in ATAD3A gene with syndromic cardiomyopathy.

Although the majority of the cases are reported with CNVs involving deletions or duplications of ATAD3 gene cluster (ATAD3A, ATAD3B & ATAD3C genes), there are also patients reported with small variants in monoallelic or biallelic states (as homozygous or as compound heterozygous with the CNV).

Hence, this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.70 ATAD3A Achchuthan Shanmugasundram Gene: atad3a has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.69 ATAD3A Achchuthan Shanmugasundram Tag cnv tag was added to gene: ATAD3A.
Paediatric or syndromic cardiomyopathy v7.69 ATAD3A Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 02 September 2025.
Paediatric or syndromic cardiomyopathy v7.69 ATAD3A Achchuthan Shanmugasundram Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931
Paediatric or syndromic cardiomyopathy v7.68 ATAD3A Achchuthan Shanmugasundram gene: ATAD3A was added
gene: ATAD3A was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307; 28549128; 31727539; 32004445; 33575671; 37095554
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931
Review for gene: ATAD3A was set to GREEN
Added comment: PMID:27640307 (2016) reported the identification of the same recurrent de novo ATAD3A variant (c.1582C>T/ p.Arg528Trp) in five unrelated individuals. Their clinical presentations included global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy (HCM). HCM was identified in two of five patients. This study also reported two additional families with biallelic ATAD3A variants - one family with homozygous c.158C>T/ p.Thr53Ile variant and the unrelated newborn with biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. The newborn with the deletion variants had mild RVH with septal hypertrophy.

PMID:28549128 (2017) reported five patients from four unrelated families with fatal congenital pontocerebellar hypoplasia and with large biallelic deletions that generate chimeric ATAD3B/ATAD3A fusion genes. Progressive cardiac hypertrophy was reported in one of five patients.

PMID:31727539 (2019) reported the identification of a novel homozygous missense variant in ATAD3A gene (c.1217 T > G/ p.Leu406Arg) in four siblings from a consanguineous family presenting with fatal neonatal cerebellar hypoplasia, seizures, axial hypotonia, HCM, hepatomegaly, congenital cataract, and dysmorphic facies. HCM was reported in all four patients.

PMID:32004445 (2020) reported five unrelated neonates with a heterozygous 67-kb duplication at 1p36.33 creating an in-frame ATAD3A–ATAD3C fusion gene. They presented with a disorder characterised by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures. HCM and DCM were reported in three and two patients respectively.

PMID:33575671 (2021) reported the investigation of 17 patients from 16 unrelated families, where six different de novo duplications in the ATAD3 gene locus (ATAD3A–ATAD3C fusion duplications) were reported. They presented with lethal perinatal cardiomyopathy, persistent hyperlactacidemia, and frequently corneal clouding or cataracts and encephalopathy.

PMID:37095554 (2023) reported four patients from two families with compound heterozygous c.229C>G (p.Leu77Val) variant and 3-4 exon deletion in ATAD3A gene. They presented with a less severe course of the disease and a longer lifespan than in the case of biallelic loss-of-function variants. Two patients from one of these two families were reported with mild HCM.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which two paediatric patients with unspecified cardiomyopathy were identified with de novo heterozygous duplication in ATAD3 gene cluster via reanalysis of data from trio genome sequencing.

Both monoallelic and biallelic variants in ATAD3A gene have been reported with relevant phenotypes in both OMIM (MIM #617183) and Gene2Phenotype (definitive rating for monoallelic and strong rating for biallelic on the DD panel). Records from both resources include hypertrophic cardiomyopathy as part of the phenotype. This gene is also green on the 'Cardiomyopathy_Paediatric' panel on PanelApp Australia.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.67 FGFR3 Achchuthan Shanmugasundram Classified gene: FGFR3 as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.67 FGFR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is no evidence directly linking FGFR3 variants to any cardiac phenotype except one patient reported from the reanalysis of the UK 100,000 genomes cohort. The phenotype was not fully explained by the genotype in this patient.

Hence, there is no reliable evidence for this association and the gene should be rated red.
Paediatric or syndromic cardiomyopathy v7.67 FGFR3 Achchuthan Shanmugasundram Gene: fgfr3 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.66 FGFR3 Achchuthan Shanmugasundram gene: FGFR3 was added
gene: FGFR3 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 39472908
Review for gene: FGFR3 was set to RED
Added comment: All reported FGFR3 variants cause skeletal or craniofacial syndromes (e.g. achondroplasia, thanatophoric dysplasia) and there are no reports of FGFR3 variants causing cardiomyopathy as a direct phenotype.

It is reported in Rare disease advisor (https://www.rarediseaseadvisor.com/disease-info-pages/achondroplasia-comorbidities/) that some children with achondroplasia (MIM #100800) develop hypertrophic cardiomyopathy or heart failure secondary to severe obstructive sleep apnea and obesity – but the FGFR3 variant itself only indirectly contributes via these complications . Lethal de novo FGFR3 variants cause perinatal dwarfism syndromes; affected infants die from respiratory insufficiency before cardiomyopathy could manifest, and no survivors with these variants have been reported to develop cardiomyopathy.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with dilated cardiomyopathy was identified with heterozygous missense variant in FGFR3 gene (c.667C>T/ p.Arg223Cys) via reanalysis of data from trio genome sequencing. This variant was reported as hot VUS and the publication states that the cardiomyopathy phenotype was not fully explained by the genotype.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.65 TKFC Achchuthan Shanmugasundram Classified gene: TKFC as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.65 TKFC Achchuthan Shanmugasundram Added comment: Comment on list classification: Three unrelated cases reported with TKFC variants (two missense and one nonsense) and cardiomyopathy. However, the phenotype did not completely segregate with variant in one family.

This gene should be rated amber with the current evidence. The 'watchlist' tag has been added to review the gene in future in light of new evidence.
Paediatric or syndromic cardiomyopathy v7.65 TKFC Achchuthan Shanmugasundram Gene: tkfc has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.64 TKFC Achchuthan Shanmugasundram gene: TKFC was added
gene: TKFC was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
watchlist tags were added to gene: TKFC.
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446; 39251934; 39472908
Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, OMIM:618805; triokinase and FMN cyclase deficiency syndrome, MONDO:0032927; cardiomyopathy, MONDO:0004994
Review for gene: TKFC was set to AMBER
Added comment: PMID:32004446 (2020) reported four affected individuals from 2 consanguineous families with congenital cataracts, developmental delay, liver dysfunction and microcytic anaemia. One of the infants also had fatal dilated cardiomyopathy (DCM) and lactic acidosis following a febrile illness. Both families were identified with homozygous missense variants in TKFC gene, and c.1628G>T (p.Arg543Ile) variant was present in the infant with DCM.

PMID:39251934 (2024) reported two deceased neonate siblings presenting with oculocutaneous albinism type1 (OCA1). They had severe skeletal abnormalities and fatal hypertrophic cardiomyopathy (HCM). Upon performing WES and segregation analysis, positive co-segregation of nonsense homozygous c.346C > T (p.Arg116Ter) variant in TYR gene and missense homozygous c.598G > A (p.Val200Ile) variant in TKFC gene were identified in the two affected patients.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with DCM was identified with homozygous missense variant in TKFC gene (c.1628G>T/ p.Arg543Ile) via reanalysis of data from trio genome sequencing. This variant is reported as likely pathogenic and the publication states that the phenotype is explained by the genotype.

This gene has been associated with Triokinase and FMN cyclase deficiency syndrome (MIM #618805) in OMIM (phenotype accessed in OMIM on 01 September 2025), which includes DCM as one of the clinical manifestations.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.63 TREX1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases reported with cardiomyopathy (one with fetal CM abdominal other being paediatric). The paediatric case was from the UK 100,000 genomes cohort and with a missense variant. In addition, there is functional evidence from knockout mouse model.

This gene should be rated amber with the current evidence. However, the 'watchlist' tag has been added to review this gene in the future in light of new evidence.; to: Comment on list classification: There are two unrelated cases reported with cardiomyopathy (one with fetal CM abdominal other being paediatric). The paediatric case was from the UK 100,000 genomes cohort and with a missense hot VUS variant. In addition, there is functional evidence from knockout mouse model.

This gene should be rated amber with the current evidence. However, the 'watchlist' tag has been added to review this gene in the future in light of new evidence.
Paediatric or syndromic cardiomyopathy v7.63 TREX1 Achchuthan Shanmugasundram Classified gene: TREX1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.63 TREX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases reported with cardiomyopathy (one with fetal CM abdominal other being paediatric). The paediatric case was from the UK 100,000 genomes cohort and with a missense variant. In addition, there is functional evidence from knockout mouse model.

This gene should be rated amber with the current evidence. However, the 'watchlist' tag has been added to review this gene in the future in light of new evidence.
Paediatric or syndromic cardiomyopathy v7.63 TREX1 Achchuthan Shanmugasundram Gene: trex1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.62 TREX1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 01 September 2025.
Paediatric or syndromic cardiomyopathy v7.62 TREX1 Achchuthan Shanmugasundram Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Aicardi-Goutieres syndrome 1, MONDO:0009165 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Aicardi-Goutieres syndrome 1, MONDO:0009165; cardiomyopathy, MONDO:0004994
Paediatric or syndromic cardiomyopathy v7.61 TREX1 Achchuthan Shanmugasundram edited their review of gene: TREX1: Changed phenotypes to: Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750, Aicardi-Goutieres syndrome 1, MONDO:0009165, cardiomyopathy, MONDO:0004994
Paediatric or syndromic cardiomyopathy v7.61 TREX1 Achchuthan Shanmugasundram gene: TREX1 was added
gene: TREX1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
watchlist tags were added to gene: TREX1.
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 15254239; 36581356; 39472908
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Aicardi-Goutieres syndrome 1, MONDO:0009165
Review for gene: TREX1 was set to AMBER
Added comment: PMID:36581356 (2022) reported a case of fetal cardiomyopathy whose postnatal symptoms resembled TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes and syphilis) infection. The mother had a history of two lost pregnancies due to fetal cardiomyopathy and the same was identified in the current pregnancy. A homozygous single base pair insertion in exon 2 of the TREX1 gene (chr3:g.48466711_48466712insG/ p.Glu20GlyfsTer82) was identified in the neonate and the parents were positive for the same heterozygous pathological variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with unspecified cardiomyopathy was identified with homozygous missense variant in TREX1 gene (c.45C>G/ p.Ile15Met) via reanalysis of data from trio genome sequencing. This variant is reported to be a hot VUS in the publication, which also stated that the phenotype was explained by the genotype.

PMID:15254239 (2004) reported the generation of Trex1(-/-) null mice, which exhibited a dramatically reduced survival, and developed inflammatory myocarditis leading to progressive, often dilated cardiomyopathy and circulatory failure.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.60 KLHL24 Achchuthan Shanmugasundram changed review comment from: Monoallelic cases:
PMID:30120936 (2019) reported 20 patients from 10 families with monoallelic gain-of-function variants affecting the translation initiation codon of KLHL24 gene (c.1A>G & c.2T>C), of which ten patients have been previously reported in PMID:27889062 (2016). They all had epidermolysis bullosa (EB), which is characterised by cutaneous and mucosal fragility. 17 (85%) of these patients had evidence of cardiac involvement with either elevated cardiac biomarkers or documented dilated cardiomyopathy (DCM) (8/20 patients [40%]), leading to death at an early age in two of them.

PMID:29779254 (2018) reported a family of Dutch descent with KLHL24-EBS that was reported with the same translation initiation codon variant c.1A>G. In addition to the cutaneous phenotypes, the affected father also developed a rapidly progressive DCM of unknown aetiology at the age of 18 years for which a cardiac transplantation was necessary within a year of the first clinical signs being seen.

PMID:31649980 (2019) reported a 14-year-old female patient with EBS and severe early-onset DCM who presented with heart failure at 14, required LVAD and orthotopic heart transplant. She was also identified with the same start codon variant (c.1A>G).

PMID:35975634 (2022) reported a four‐generation Australian family where 14 members suffer(ed) from EBS and five from DCM. Next‐generation sequencing and segregation analysis identified a novel heterozygous variant in KLHL24 (c.22A>T/ p.Arg8Ter) in the proband and several other affected members.

Monoallelic variants have been associated with relevant phenotypes in OMIM (MIM #617294) and Gene2Phenotype (with 'moderate' rating on skin panel).

Biallelic cases:
PMID:30715372 (2019) reported 11 young affected adult patients from two unrelated families with hypertrophic cardiomyopathy (HCM), of which 3 died suddenly and 1 had a cardiac transplant due to heart failure. Homozygous KLHL24 variants were identified in these families using genome-wide linkage analysis and exome sequencing (c.1048G>T/ p.Glu350Ter & c.917G>A/ p.Arg306His).

PMID:32870709 (2022) reported two hundred and five unrelated families with childhood-onset cardiomyopathy from Saudi Arabia, from which one patient with HCM was identified with homozygous nonsense variant in KLHL24 gene (c.1161G>A/ p.Trp387Ter) .

PMID:36672924 (2023) reported eight unrelated probands of Middle Eastern descent presenting with HCM/DCM, of which one patient presenting with mixed HCM/DCM with LVNC was identified with homozygous p.Arg306His missense variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with hypertrophic cardiomyopathy was identified with homozygous missense variant in KLHL24 gene (c.1376T>C/ p.Ile459Thr) via reanalysis of data from trio genome sequencing.

Biallelic variants have been associated with relevant phenotypes in OMIM (MIM #620236) and ClinGen ('moderate' rating for hypertrophic cardiomyopathy (MONDO:0005045) by Hereditary Cardiovascular Disease GCEP).
Sources: Literature; to: Monoallelic cases:
PMID:30120936 (2019) reported 20 patients from 10 families with monoallelic gain-of-function variants affecting the translation initiation codon of KLHL24 gene (c.1A>G & c.2T>C), of which ten patients have been previously reported in PMID:27889062 (2016). They all had epidermolysis bullosa (EB), which is characterised by cutaneous and mucosal fragility. 17 (85%) of these patients had evidence of cardiac involvement with either elevated cardiac biomarkers or documented dilated cardiomyopathy (DCM) (8/20 patients [40%]), leading to death at an early age in two of them.

PMID:29779254 (2018) reported a family of Dutch descent with KLHL24-EBS that was reported with the same translation initiation codon variant c.1A>G. In addition to the cutaneous phenotypes, the affected father also developed a rapidly progressive DCM of unknown aetiology at the age of 18 years for which a cardiac transplantation was necessary within a year of the first clinical signs being seen.

PMID:31649980 (2019) reported a 14-year-old female patient with EBS and severe early-onset DCM who presented with heart failure at 14, required LVAD and orthotopic heart transplant. She was also identified with the same start codon variant (c.1A>G).

PMID:35975634 (2022) reported a four‐generation Australian family where 14 members suffer(ed) from EBS and five from DCM. Next‐generation sequencing and segregation analysis identified a novel heterozygous variant in KLHL24 (c.22A>T/ p.Arg8Ter) in the proband and several other affected members.

Monoallelic variants have been associated with relevant phenotypes in OMIM (MIM #617294) and Gene2Phenotype (with 'moderate' rating on skin panel).

Biallelic cases:
PMID:30715372 (2019) reported 11 young affected adult patients from two unrelated families with hypertrophic cardiomyopathy (HCM), of which 3 died suddenly and 1 had a cardiac transplant due to heart failure. Homozygous KLHL24 variants were identified in these families using genome-wide linkage analysis and exome sequencing (c.1048G>T/ p.Glu350Ter & c.917G>A/ p.Arg306His).

PMID:32870709 (2022) reported two hundred and five unrelated families with childhood-onset cardiomyopathy from Saudi Arabia, from which one patient with HCM was identified with homozygous nonsense variant in KLHL24 gene (c.1161G>A/ p.Trp387Ter) .

PMID:36672924 (2023) reported eight unrelated probands of Middle Eastern descent presenting with HCM/DCM, of which one patient presenting with mixed HCM/DCM with LVNC was identified with homozygous p.Arg306His missense variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with hypertrophic cardiomyopathy was identified with homozygous missense variant in KLHL24 gene (c.1376T>C/ p.Ile459Thr) via reanalysis of data from trio genome sequencing. This variant was reported as hot VUS in the publication

Biallelic variants have been associated with relevant phenotypes in OMIM (MIM #620236) and ClinGen ('moderate' rating for hypertrophic cardiomyopathy (MONDO:0005045) by Hereditary Cardiovascular Disease GCEP).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.60 KLHL24 Achchuthan Shanmugasundram Classified gene: KLHL24 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.60 KLHL24 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic KLHL24 variants with dilated cardiomyopathy/ hypertrophic cardiopmyopathy. Hence, this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.60 KLHL24 Achchuthan Shanmugasundram Gene: klhl24 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.59 KLHL24 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: KLHL24.
Paediatric or syndromic cardiomyopathy v7.59 KLHL24 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 01 September 2025.
Paediatric or syndromic cardiomyopathy v7.59 KLHL24 Achchuthan Shanmugasundram Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294; epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294; epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Paediatric or syndromic cardiomyopathy v7.58 KLHL24 Achchuthan Shanmugasundram Publications for gene: KLHL24 were set to 27889062; 29779254; 30120936; 31649980; 32870709; 35975634; 36672924; 3947290
Paediatric or syndromic cardiomyopathy v7.57 KLHL24 Achchuthan Shanmugasundram edited their review of gene: KLHL24: Changed publications to: 27889062, 29779254, 30120936, 31649980, 32870709, 35975634, 36672924, 39472908
Paediatric or syndromic cardiomyopathy v7.57 KLHL24 Achchuthan Shanmugasundram changed review comment from: Monoallelic cases:
PMID:30120936 (2019) reported 20 patients from 10 families with monoallelic gain-of-function variants affecting the translation initiation codon of KLHL24 gene (c.1A>G & c.2T>C), of which ten patients have been previously reported in PMID:27889062 (2016). They all had epidermolysis bullosa (EB), which is characterised by cutaneous and mucosal fragility. 17 (85%) of these patients had evidence of cardiac involvement with either elevated cardiac biomarkers or documented dilated cardiomyopathy (DCM) (8/20 patients [40%]), leading to death at an early age in two of them.

PMID:29779254 (2018) reported a family of Dutch descent with KLHL24-EBS that was reported with the same translation initiation codon variant c.1A>G. In addition to the cutaneous phenotypes, the affected father also developed a rapidly progressive DCM of unknown aetiology at the age of 18 years for which a cardiac transplantation was necessary within a year of the first clinical signs being seen.

PMID:31649980 (2019) reported a 14-year-old female patient with EBS and severe early-onset DCM who presented with heart failure at 14, required LVAD and orthotopic heart transplant. She was also identified with the same start codon variant (c.1A>G).

PMID:35975634 (2022) reported a four‐generation Australian family where 14 members suffer(ed) from EBS and five from DCM. Next‐generation sequencing and segregation analysis identified a novel heterozygous variant in KLHL24 (c.22A>T/ p.Arg8Ter) in the proband and several other affected members.

Monoallelic variants have been associated with relevant phenotypes in OMIM (MIM #617294) and Gene2Phenotype (with 'moderate' rating on skin panel).

Biallelic cases:
PMID:30715372 (2019) reported 11 young affected adult patients from two unrelated families with hypertrophic cardiomyopathy (HCM), of which 3 died suddenly and 1 had a cardiac transplant due to heart failure. Homozygous KLHL24 variants were identified in these families using genome-wide linkage analysis and exome sequencing (c.1048G>T/ p.Glu350Ter & c.917G>A/ p.Arg306His).

PMID:32870709 (2022) reported two hundred and five unrelated families with childhood-onset cardiomyopathy from Saudi Arabia, from which one patient with HCM was identified with homozygous nonsense variant in KLHL24 gene (c.1161G>A/ p.Trp387Ter) .

PMID:36672924 (2023) reported eight unrelated probands of Middle Eastern descent presenting with HCM/DCM, of which one patient presenting with mixed HCM/DCM with LVNC was identified with homozygous p.Arg306His missense variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with homozygous missense variant in KLHL24 gene (c.1376T>C/ p.Ile459Thr) via reanalysis of data from trio genome sequencing.

Biallelic variants have been associated with relevant phenotypes in OMIM (MIM #620236) and ClinGen ('moderate' rating for hypertrophic cardiomyopathy (MONDO:0005045) by Hereditary Cardiovascular Disease GCEP).
Sources: Literature; to: Monoallelic cases:
PMID:30120936 (2019) reported 20 patients from 10 families with monoallelic gain-of-function variants affecting the translation initiation codon of KLHL24 gene (c.1A>G & c.2T>C), of which ten patients have been previously reported in PMID:27889062 (2016). They all had epidermolysis bullosa (EB), which is characterised by cutaneous and mucosal fragility. 17 (85%) of these patients had evidence of cardiac involvement with either elevated cardiac biomarkers or documented dilated cardiomyopathy (DCM) (8/20 patients [40%]), leading to death at an early age in two of them.

PMID:29779254 (2018) reported a family of Dutch descent with KLHL24-EBS that was reported with the same translation initiation codon variant c.1A>G. In addition to the cutaneous phenotypes, the affected father also developed a rapidly progressive DCM of unknown aetiology at the age of 18 years for which a cardiac transplantation was necessary within a year of the first clinical signs being seen.

PMID:31649980 (2019) reported a 14-year-old female patient with EBS and severe early-onset DCM who presented with heart failure at 14, required LVAD and orthotopic heart transplant. She was also identified with the same start codon variant (c.1A>G).

PMID:35975634 (2022) reported a four‐generation Australian family where 14 members suffer(ed) from EBS and five from DCM. Next‐generation sequencing and segregation analysis identified a novel heterozygous variant in KLHL24 (c.22A>T/ p.Arg8Ter) in the proband and several other affected members.

Monoallelic variants have been associated with relevant phenotypes in OMIM (MIM #617294) and Gene2Phenotype (with 'moderate' rating on skin panel).

Biallelic cases:
PMID:30715372 (2019) reported 11 young affected adult patients from two unrelated families with hypertrophic cardiomyopathy (HCM), of which 3 died suddenly and 1 had a cardiac transplant due to heart failure. Homozygous KLHL24 variants were identified in these families using genome-wide linkage analysis and exome sequencing (c.1048G>T/ p.Glu350Ter & c.917G>A/ p.Arg306His).

PMID:32870709 (2022) reported two hundred and five unrelated families with childhood-onset cardiomyopathy from Saudi Arabia, from which one patient with HCM was identified with homozygous nonsense variant in KLHL24 gene (c.1161G>A/ p.Trp387Ter) .

PMID:36672924 (2023) reported eight unrelated probands of Middle Eastern descent presenting with HCM/DCM, of which one patient presenting with mixed HCM/DCM with LVNC was identified with homozygous p.Arg306His missense variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one paediatric patient with hypertrophic cardiomyopathy was identified with homozygous missense variant in KLHL24 gene (c.1376T>C/ p.Ile459Thr) via reanalysis of data from trio genome sequencing.

Biallelic variants have been associated with relevant phenotypes in OMIM (MIM #620236) and ClinGen ('moderate' rating for hypertrophic cardiomyopathy (MONDO:0005045) by Hereditary Cardiovascular Disease GCEP).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.57 KLHL24 Achchuthan Shanmugasundram gene: KLHL24 was added
gene: KLHL24 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27889062; 29779254; 30120936; 31649980; 32870709; 35975634; 36672924; 3947290
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294; epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Mode of pathogenicity for gene: KLHL24 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KLHL24 was set to GREEN
Added comment: Monoallelic cases:
PMID:30120936 (2019) reported 20 patients from 10 families with monoallelic gain-of-function variants affecting the translation initiation codon of KLHL24 gene (c.1A>G & c.2T>C), of which ten patients have been previously reported in PMID:27889062 (2016). They all had epidermolysis bullosa (EB), which is characterised by cutaneous and mucosal fragility. 17 (85%) of these patients had evidence of cardiac involvement with either elevated cardiac biomarkers or documented dilated cardiomyopathy (DCM) (8/20 patients [40%]), leading to death at an early age in two of them.

PMID:29779254 (2018) reported a family of Dutch descent with KLHL24-EBS that was reported with the same translation initiation codon variant c.1A>G. In addition to the cutaneous phenotypes, the affected father also developed a rapidly progressive DCM of unknown aetiology at the age of 18 years for which a cardiac transplantation was necessary within a year of the first clinical signs being seen.

PMID:31649980 (2019) reported a 14-year-old female patient with EBS and severe early-onset DCM who presented with heart failure at 14, required LVAD and orthotopic heart transplant. She was also identified with the same start codon variant (c.1A>G).

PMID:35975634 (2022) reported a four‐generation Australian family where 14 members suffer(ed) from EBS and five from DCM. Next‐generation sequencing and segregation analysis identified a novel heterozygous variant in KLHL24 (c.22A>T/ p.Arg8Ter) in the proband and several other affected members.

Monoallelic variants have been associated with relevant phenotypes in OMIM (MIM #617294) and Gene2Phenotype (with 'moderate' rating on skin panel).

Biallelic cases:
PMID:30715372 (2019) reported 11 young affected adult patients from two unrelated families with hypertrophic cardiomyopathy (HCM), of which 3 died suddenly and 1 had a cardiac transplant due to heart failure. Homozygous KLHL24 variants were identified in these families using genome-wide linkage analysis and exome sequencing (c.1048G>T/ p.Glu350Ter & c.917G>A/ p.Arg306His).

PMID:32870709 (2022) reported two hundred and five unrelated families with childhood-onset cardiomyopathy from Saudi Arabia, from which one patient with HCM was identified with homozygous nonsense variant in KLHL24 gene (c.1161G>A/ p.Trp387Ter) .

PMID:36672924 (2023) reported eight unrelated probands of Middle Eastern descent presenting with HCM/DCM, of which one patient presenting with mixed HCM/DCM with LVNC was identified with homozygous p.Arg306His missense variant.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with homozygous missense variant in KLHL24 gene (c.1376T>C/ p.Ile459Thr) via reanalysis of data from trio genome sequencing.

Biallelic variants have been associated with relevant phenotypes in OMIM (MIM #620236) and ClinGen ('moderate' rating for hypertrophic cardiomyopathy (MONDO:0005045) by Hereditary Cardiovascular Disease GCEP).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.56 SCN8A Achchuthan Shanmugasundram Classified gene: SCN8A as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.56 SCN8A Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case available in support of the association of monoallelic SCN8A variants with cardiomyopathy from UK 100,000 genomes cohort. The cardiomyopathy phenotype is not explained by the genotype in this patient.

Hence, there is no reliable evidence for this association and this gene should be rated red on this panel.
Paediatric or syndromic cardiomyopathy v7.56 SCN8A Achchuthan Shanmugasundram Gene: scn8a has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.55 SCN8A Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 01 September 2025.
Paediatric or syndromic cardiomyopathy v7.55 SCN8A Achchuthan Shanmugasundram Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364
Paediatric or syndromic cardiomyopathy v7.54 SCN8A Achchuthan Shanmugasundram changed review comment from: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy.

However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype.

In addition, no cardiac presentations has been recorded as part of the OMIM phenotypes.
Sources: Literature; to: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy.

However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype.

In addition, no cardiac presentations have been recorded as clinical manifestations for the OMIM phenotypes.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.54 SCN8A Achchuthan Shanmugasundram gene: SCN8A was added
gene: SCN8A was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 3947290
Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558; Seizures, benign familial infantile, 5, OMIM:617080; ?Myoclonus, familial, 2, OMIM:618364
Review for gene: SCN8A was set to RED
Added comment: SCN8A is a well-established gene for complex neurodevelopmental disorder including early-onset epilepsy and developmental impairments. SCN8A has been associated with relevant phenotypes in OMIM (MIMs #614306, #614558, #617080 & #618364), Gene2Phenotype (with 'definitive' rating on the DD panel) and ClinGen ('definitive' rating for complex neurodevelopmental disorder (MONDO:0100038) by Epilepsy GCEP). There is significant evidence that SCN8A variants can lead to cardiac arrhythmias (e.g. bradycardia) during epileptic seizures and increase risk for Sudden Unexpected Death in Epilepsy.

However, there is no published evidence associating SCN8A variants to cardiomyopathy except for a single patient reported in PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous missense variant in SCN8A gene (c.3967G>A/ p.Ala1323Thr) via reanalysis of data from trio genome sequencing. This variant is reported to be likely pathogenic in the publication. However, the publication states that the cardiomyopathy phenotype is not explained by the genotype.

In addition, no cardiac presentations has been recorded as part of the OMIM phenotypes.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.53 NPHP3 Achchuthan Shanmugasundram Classified gene: NPHP3 as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.53 NPHP3 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is primarily associated with nephronophthisis in > 20 unrelated cases. There is only one patient reported with a NPHP3 synonymous variant from UK 100,000 genomes cohort and the phenotype was not explained by the variant.

Hence, this gene does not have any evidence of reliable association with cardiomyopathy and should be rated red.
Paediatric or syndromic cardiomyopathy v7.53 NPHP3 Achchuthan Shanmugasundram Gene: nphp3 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.52 NPHP3 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 01 September 2025.
Paediatric or syndromic cardiomyopathy v7.52 NPHP3 Achchuthan Shanmugasundram Phenotypes for gene: NPHP3 were changed from Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010 to Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010
Paediatric or syndromic cardiomyopathy v7.51 NPHP3 Achchuthan Shanmugasundram gene: NPHP3 was added
gene: NPHP3 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP3 were set to 34212438; 39472908
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, OMIM:208540; Nephronophthisis 3, OMIM:604387; Meckel syndrome 7, OMIM:267010
Review for gene: NPHP3 was set to RED
Added comment: There are >20 unrelated patients reported with biallelic variants in NPHP3 and with nephronophthisis. occasionally, patients have presented with extra-renal features, including rare congenital heart defects in a small number of cases. There are three OMIM phenotypes associated with this gene, of which Renal-hepatic-pancreatic dysplasia 1 (MIM #208540) had recorded atrial septal defect, aortic stenosis, or situs abnormalities as potential cardiovascular presentations.

The only patient that was reported with cardiomyopathy was from PMID:39472908 (2024). This publication reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with homozygous synonymous variant in NPHP3 gene (c.2805C>T/ p.Gly935=) via reanalysis of data from duo genome sequencing. The publication states that the cardiomyopathy phenotype is not explained by the genotype.

This variant was previously reported to be responsible for hepatorenal fibrocystic disease from PMID:34212438 in five unrelated families. The two patients from the UK 100,000 genomes cohort reported in this publication also had valvular cardiopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.50 JAK1 Achchuthan Shanmugasundram changed review comment from: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as a likely pathogenic in the publication.

PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis.
Sources: Literature; to: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as likely pathogenic in the publication.

PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.50 JAK1 Achchuthan Shanmugasundram Classified gene: JAK1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.50 JAK1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Monoallelic variants in JAK1 gene are primarily associated with 'Autoinflammation, immune dysregulation, and eosinophilia' (MIM #618999, accessed on 01 September 2025).

However, there is only one case from the UK 100,000 genomes cohort and functional evidence from mouse models in support of the association of monoallelic variants in this gene with dilated cardiomyopathy. Hence, this gene can only be rated amber with the current evidence.
Paediatric or syndromic cardiomyopathy v7.50 JAK1 Achchuthan Shanmugasundram Gene: jak1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.49 JAK1 Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v7.49 JAK1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 01 September 2025.
Paediatric or syndromic cardiomyopathy v7.49 JAK1 Achchuthan Shanmugasundram Phenotypes for gene: JAK1 were changed from Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021 to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v7.48 JAK1 Achchuthan Shanmugasundram gene: JAK1 was added
gene: JAK1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 39472908; 40744288
Phenotypes for gene: JAK1 were set to Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999; autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558; dilated cardiomyopathy, MONDO:0005021
Review for gene: JAK1 was set to AMBER
Added comment: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort. One of these patients with dilated cardiomyopathy was identified with de novo heterozygous missense variant in JAK1 gene (c.2666T>C/ p.Val889Ala) via reanalysis of data from trio genome sequencing, as this gene was not originally included in the panel. This variant was reported as a likely pathogenic in the publication.

PMID:40744288 (2025) reported a mouse model with cardiomyocyte-specific deletion of JAK1, where JAK1 loss in cardiomyocytes results in dilated cardiomyopathy by 6 months of age, indicating cytokine receptor signaling through JAK1 is essential for cardiac physiology. In addition, cardiomyopathy in aged mice lacking cardiomyocyte JAK1 was characterised by substantial myocardial fibrosis.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.47 GNS Arina Puzriakova Phenotypes for gene: GNS were changed from Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis Type III to Mucopolysaccharidosis type IIID, OMIM:252940
Paediatric or syndromic cardiomyopathy v7.46 NF1 Achchuthan Shanmugasundram Classified gene: NF1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.46 NF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with monoallelic NF1 gene deletions and hypertrophic cardiomyopathy. In addition, three patients were reported with monoallelic NF1 small variants and cardiomyopathy.

Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.46 NF1 Achchuthan Shanmugasundram Gene: nf1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.45 NF1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NF1.
Paediatric or syndromic cardiomyopathy v7.45 NF1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 29 August 2025.
Paediatric or syndromic cardiomyopathy v7.45 NF1 Achchuthan Shanmugasundram Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200; Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis Noonan syndrome; Neurofibromatosis-Noonan Syndrome to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis, familial spinal, OMIM:162210; Neurofibromatosis-Noonan syndrome, OMIM:601321; Watson syndrome, OMIM:193520; cardiomyopathy, MONDO:0004994
Paediatric or syndromic cardiomyopathy v7.44 NF1 Achchuthan Shanmugasundram edited their review of gene: NF1: Changed phenotypes to: Neurofibromatosis, type 1, OMIM:162200, Neurofibromatosis, familial spinal, OMIM:162210, Neurofibromatosis-Noonan syndrome, OMIM:601321, Watson syndrome, OMIM:193520, cardiomyopathy, MONDO:0004994
Paediatric or syndromic cardiomyopathy v7.44 NF1 Achchuthan Shanmugasundram Publications for gene: NF1 were set to 12707950; 16380919; 19845691
Paediatric or syndromic cardiomyopathy v7.43 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278345, 30919579, 38654147, 39472908; Phenotypes: Neurofibromatosis, type 1, OMIM:162200, neurofibromatosis type 1, MONDO:0018975, cardiomyopathy, MONDO:0004994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram changed review comment from: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Arg313Pro & c.1232C>T/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.; to: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Classified gene: NAA15 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Added comment: Comment on list classification: The majority of the cases reported with heterozygous NAA15 variants do not present with cardiomyopathy, while a significant proportion of cases had congenital cardiac defects.

There were >50 cases reported in total. However, only three unrelated cases were reported with cardiomyopathy (two frameshift variants and one missense variant), of which one of the cases were from the UK 100,000 genomes project cohort.

Hence, this gene should remain as amber. The 'watchlist' tag has been added to review new evidence in the future.
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Gene: naa15 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.42 NAA15 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 29 August 2025.
Paediatric or syndromic cardiomyopathy v7.42 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from hypertrophic cardiomyopathy, MONDO:0005045 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v7.41 NAA15 Achchuthan Shanmugasundram Publications for gene: NAA15 were set to 33103328
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NAA15.
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram edited their review of gene: NAA15: Added comment: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Arg313Pro & c.1232C>T/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.; Changed publications to: 33103328, 39472908
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram changed review comment from: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated cases reported with paediatric hypertrophic cardiomyopathy.

PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).; to: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated cases reported with paediatric hypertrophic cardiomyopathy.

PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients were reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram changed review comment from: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated c cases reported with paediatric hypertrophic cardiomyopathy.

PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).; to: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated cases reported with paediatric hypertrophic cardiomyopathy.

PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).
Paediatric or syndromic cardiomyopathy v7.40 MTO1 Achchuthan Shanmugasundram Classified gene: MTO1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.40 MTO1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are > 30 cases reported with biallelic MTO1 variants and hypertrophic cardiomyopathy as one of the hallmark presentations. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.40 MTO1 Achchuthan Shanmugasundram Gene: mto1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.39 MTO1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: MTO1.
Paediatric or syndromic cardiomyopathy v7.39 MTO1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #614702) and Gene2Phenotype (with 'definitive' rating on the DD panel). OMIM phenotype was accessed on 29 August 2025.
Paediatric or syndromic cardiomyopathy v7.39 MTO1 Achchuthan Shanmugasundram Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, OMIM:614702; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865 to Combined oxidative phosphorylation deficiency 10, OMIM:614702; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865
Paediatric or syndromic cardiomyopathy v7.38 MTO1 Achchuthan Shanmugasundram gene: MTO1 was added
gene: MTO1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 22608499; 23929671; 34547275; 34990597; 39472908
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, OMIM:614702; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865
Review for gene: MTO1 was set to GREEN
Added comment: PMID:22608499 (2012) reported two infant siblings and an unrelated child of Italian descent with hypertrophic cardiomyopathy and neonatal lactic acidosis. The siblings died early in their life (when 19 days and 40 days old). The affected siblings were identified with compound heterozygous variants in MTO1 gene – a maternal frameshift variant (c.1858dup/ p.Arg620Lysfs(∗)8) and a paternal missense variant (c.1282G>A/ p.Ala428Thr). The unrelated patient was homozygous for the same missense variant (c.1282G>A).

PMID:23929671 (2013) reported five additional patients from three unrelated families, who also presented with hypertrophic cardiomyopathy and lactic acidosis, in addition to other variable phenotypes including psychomotor delay, hypotonia, feeding difficulties and respiratory illness. The two sibling pairs were identified with homozygous missense variants (c.1232C>T/ p.Thr411Ile), while the unrelated patient was reported with compound heterozygous missense variants (c.1402G>A/ p.Ala428Thr & c.1430G>A/ p.Arg477His).

PMID:34547275 (2021) reported the identification of compound heterozygous variants in MTO1 gene in a Chinese patient with complex oxidative phosphorylation deficiency type 10 (COXPD10). This patient had lactic acidosis and cardia abnormalities such as myocarditis and tachycardia, but not hypertrophic cardiomyopathy. The identified variants are c.344delA (p.Asn115Thrfs*11, frameshift) and c.1055C>T (p.Thr352Met, missense).

PMID:34990597 (2022) reported a patient with COXPD10 presenting with multiple organ failure, severe pneumonia, sepsis, hyperlactatemia, metabolic acidosis, and moderate anaemia. The patient was identified with compound heterozygous variants in MTO1 gene (c.1291C > T/ p.Arg431Trp and c.1390C > T/ p.Arg464Cys). The patient also showed HCM. This study also reviewed previously published cases of confirmed MTO1 deficiency. Of 42 total cases including the patient reported in this study, 32 patients were reported with HCM and one additional patient was reported with dilated cardiomyopathy.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one patient with unspecified cardiomyopathy was identified with compound heterozygous missense variants in MTO1 gene (c.938G>C/ p.Arg313Pro & c.1232C>T/ p.Thr411Ile).

There is also functional evidence available in support of the disease association.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.37 NEB Achchuthan Shanmugasundram Classified gene: NEB as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.37 NEB Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only patient reported in a large cohort study (UK 100,000 genomes project) with unspecified cardiomyopathy and homozygous NEB variant. No further phenotypic information was reported in the publication (PMID:39472908).

All other reported cases did not have confirmed cardiomyopathy (despite some cardiac involvement in a few cases) or had Nemaline myopathy and cardiomyopathy with variants in other genes (e.g. ACTA1).

There is no functional evidence to suggest the association of NEB with cardiomyopathy.

Hence, this gene should be rated red.
Paediatric or syndromic cardiomyopathy v7.37 NEB Achchuthan Shanmugasundram Gene: neb has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.36 NEB Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 28 August 2025.
Paediatric or syndromic cardiomyopathy v7.36 NEB Achchuthan Shanmugasundram Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, OMIM:256030 to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Paediatric or syndromic cardiomyopathy v7.35 NEB Achchuthan Shanmugasundram gene: NEB was added
gene: NEB was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 23650303; 26321576; 28131200; 29070751; 29070751; 39472908
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Review for gene: NEB was set to RED
Added comment: Biallelic variants in NEB are reported to cause Nemaline myopathy 2 (MIM #256030), which is a skeletal muscle disorder with a wide range of severity and age-of-onset. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. The OMIM record (MIM #256030) does not list any cardiac presentations as part of the phenotype.

Cardiac involvement has only been reported in very few cases with NEB-related nemaline myopathy in the literature. However, there is no evidence available to suggest that these patients presented with cardiomyopathy (PMIDs: 28131200 (2016); 29070751 (2017, Article in Japanese); 29070751 (2020).

Although a 9-year-old male patient with nemaline myopathy with dilated cardiomyopathy reported in PMID:23650303 (2013), the patient harboured a novel heterozygous ACTA1 variant, which is causative of the disease.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one male patient with unspecified cardiomyopathy was identified with a homozygous splice donor variant in NEB gene (c.2415+1G>A). However, no further information on patient phenotypes was provided in the patient.

Nebulin is primarily expressed in skeletal muscles and expressed at very low levels in heart. In addition, no cardiac phenotype was reported in NEB knockout mouse models (PMID: 26321576, 2015), suggesting that the any cardiac failure in patients with NEB-related Nemaline myopathy may be secondary to respiratory failure.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.34 PLD1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is an additional patient reported with dilated cardiomyopathy and homozygous splice donor variant in PLD1 gene from the UK 100,000 genomes project cohort.

As previously reviewed by Jesse Hayesmoore and agreed by the NHS Genomic Medicine Service, this gene has recently been demoted from green rating. This was because the variants previously identified from patients might not be pathogenic for a severe autosomal recessive condition, as they are frequently present in homozygous state in general populations. Hence, the rating for this gene should remain amber despite the report of this additional case.; to: Comment on list classification: There is an additional patient reported with dilated cardiomyopathy and homozygous splice donor variant in PLD1 gene from the UK 100,000 genomes project cohort.

As previously reviewed by Jesse Hayesmoore and agreed by the NHS Genomic Medicine Service, this gene has been demoted from green rating. This was because the variants previously identified from patients might not be pathogenic for a severe autosomal recessive condition, as they are frequently present in homozygous state in general populations. Hence, the rating for this gene should remain amber despite the report of this additional case.
Paediatric or syndromic cardiomyopathy v7.34 NDUFA4 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence.; to: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from the UK 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence.
Paediatric or syndromic cardiomyopathy v7.34 SGCG Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are >20 unrelated patients reported with biallelic SGCG variants and with 'Muscular dystrophy, limb-girdle, autosomal recessive 5' (MIM #253700). However, the disease has a variable presentation and cardiomyopathy was reported only in a subset of patients. Five different variants (two frameshift and three missense variants) were identified in these patients with cardiac phenotypes, including the p.Cys283Tyr founder variant in Gypsies.

As this panel includes syndromic cases, this gene can be considered for promotion to green rating in the next GMS update.; to: Comment on list classification: There are >20 unrelated patients reported with biallelic SGCG variants and with 'Muscular dystrophy, limb-girdle, autosomal recessive 5' (MIM #253700). However, the disease has a variable presentation and cardiomyopathy was reported only in a subset of patients. Five different variants (two frameshift and three missense variants) were identified in these patients with cardiac phenotypes, including the p.Cys283Tyr founder variant in Gypsies.

There is also functional evidence from mice model, which supports the association of SGCG gene with cardiomyopathy.

As this panel includes syndromic cases, this gene can be considered for promotion to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.34 SGCG Achchuthan Shanmugasundram Publications for gene: SGCG were set to 10942431; 11053682; 24464767; 39472908
Paediatric or syndromic cardiomyopathy v7.33 SGCG Achchuthan Shanmugasundram edited their review of gene: SGCG: Changed publications to: 10942431, 11053682, 14991064, 24464767, 39472908
Paediatric or syndromic cardiomyopathy v7.33 SGCG Achchuthan Shanmugasundram changed review comment from: PMID:10942431 (2000) reported two siblings of Middle Eastern descent with autosomal recessive limb-girdle muscular dystrophy (LGMDR5), of which one of them presented with dilated cardiomyopathy. Both siblings were identified with a homozygous frameshift variant in SGCG gene (c.525delT).

PMID:11053682 (2000) reported a homogeneous group of 10 gypsy patients from three kindreds with a homozygous founder variant (c.848G>A/ p.Cys283Tyr) in SGCG gene. While all 10 had severe limb-girdle muscular dystrophy, right ventricle free wall hypertrophy and/or dilatation was found in six of these patients, and four of the older patients had early signs of right ventricular dysfunction.

PMID:24464767 (2014) reported the retrospective analysis of 19 patients, of which 11 patients were reported with SGCG-related LGMDR5 and 8 were reported with SGCA-related LGMDR3. All but one patient with gamma-sarcoglycanopathy harboured c.525delT variant, and one patient had c.525delT variant. Five of these 11 patients with LGMDR5 had left ventricular dysfunction (LVEF < 50%).

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one male patient with dilated cardiomyopathy was identified with compound heterozygous missense variants in SGCG gene (c.158T>C/ p.Leu53Pro & c.787G>A/ p.Glu263Lys), of which c.787G>A variant was proven to be inherited.

This gene has been associated with Muscular dystrophy, limb-girdle, autosomal recessive 5 (MIM #253700) in OMIM, which also records cardiac involvement in a subset of patients as relevant clinical presentation (abnormal precordial tall R waves on EKG, right ventricular hypertrophy and right ventricular dilatation).
Sources: Literature; to: PMID:10942431 (2000) reported two siblings of Middle Eastern descent with autosomal recessive limb-girdle muscular dystrophy (LGMDR5), of which one of them presented with dilated cardiomyopathy. Both siblings were identified with a homozygous frameshift variant in SGCG gene (c.525delT).

PMID:11053682 (2000) reported a homogeneous group of 10 gypsy patients from three kindreds with a homozygous founder variant (c.848G>A/ p.Cys283Tyr) in SGCG gene. While all 10 had severe limb-girdle muscular dystrophy, right ventricle free wall hypertrophy and/or dilatation was found in six of these patients, and four of the older patients had early signs of right ventricular dysfunction.

PMID:24464767 (2014) reported the retrospective analysis of 19 patients, of which 11 patients were reported with SGCG-related LGMDR5 and 8 were reported with SGCA-related LGMDR3. All but one patient with gamma-sarcoglycanopathy harboured c.525delT variant, and one patient had c.525delT variant. Five of these 11 patients with LGMDR5 had left ventricular dysfunction (LVEF < 50%).

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one male patient with dilated cardiomyopathy was identified with compound heterozygous missense variants in SGCG gene (c.158T>C/ p.Leu53Pro & c.787G>A/ p.Glu263Lys), of which c.787G>A variant was proven to be inherited.

This gene has been associated with Muscular dystrophy, limb-girdle, autosomal recessive 5 (MIM #253700) in OMIM, which also records cardiac involvement in a subset of patients as relevant clinical presentation (abnormal precordial tall R waves on EKG, right ventricular hypertrophy and right ventricular dilatation).

PMID:14991064 provided functional evidence from Sgcg knockout mice, which develop a progressive cardiomyopathy characterised by focal myocardial degeneration and fibrosis. Transgenic rescue experiments in mice showed that re-expressing SGCG only in cardiac muscle (but not in vascular muscle) was sufficient to prevent the cardiomyopathy in Sgcg-null mice.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.33 SGCG Achchuthan Shanmugasundram Classified gene: SGCG as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.33 SGCG Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >20 unrelated patients reported with biallelic SGCG variants and with 'Muscular dystrophy, limb-girdle, autosomal recessive 5' (MIM #253700). However, the disease has a variable presentation and cardiomyopathy was reported only in a subset of patients. Five different variants (two frameshift and three missense variants) were identified in these patients with cardiac phenotypes, including the p.Cys283Tyr founder variant in Gypsies.

As this panel includes syndromic cases, this gene can be considered for promotion to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.33 SGCG Achchuthan Shanmugasundram Gene: sgcg has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.32 SGCG Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: SGCG.
Paediatric or syndromic cardiomyopathy v7.32 SGCG Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 26 August 2025.
Paediatric or syndromic cardiomyopathy v7.32 SGCG Achchuthan Shanmugasundram Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
Paediatric or syndromic cardiomyopathy v7.31 SGCG Achchuthan Shanmugasundram gene: SGCG was added
gene: SGCG was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCG were set to 10942431; 11053682; 24464767; 39472908
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
Review for gene: SGCG was set to GREEN
Added comment: PMID:10942431 (2000) reported two siblings of Middle Eastern descent with autosomal recessive limb-girdle muscular dystrophy (LGMDR5), of which one of them presented with dilated cardiomyopathy. Both siblings were identified with a homozygous frameshift variant in SGCG gene (c.525delT).

PMID:11053682 (2000) reported a homogeneous group of 10 gypsy patients from three kindreds with a homozygous founder variant (c.848G>A/ p.Cys283Tyr) in SGCG gene. While all 10 had severe limb-girdle muscular dystrophy, right ventricle free wall hypertrophy and/or dilatation was found in six of these patients, and four of the older patients had early signs of right ventricular dysfunction.

PMID:24464767 (2014) reported the retrospective analysis of 19 patients, of which 11 patients were reported with SGCG-related LGMDR5 and 8 were reported with SGCA-related LGMDR3. All but one patient with gamma-sarcoglycanopathy harboured c.525delT variant, and one patient had c.525delT variant. Five of these 11 patients with LGMDR5 had left ventricular dysfunction (LVEF < 50%).

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one male patient with dilated cardiomyopathy was identified with compound heterozygous missense variants in SGCG gene (c.158T>C/ p.Leu53Pro & c.787G>A/ p.Glu263Lys), of which c.787G>A variant was proven to be inherited.

This gene has been associated with Muscular dystrophy, limb-girdle, autosomal recessive 5 (MIM #253700) in OMIM, which also records cardiac involvement in a subset of patients as relevant clinical presentation (abnormal precordial tall R waves on EKG, right ventricular hypertrophy and right ventricular dilatation).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.30 PLD1 Achchuthan Shanmugasundram Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.30 PLD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is an additional patient reported with dilated cardiomyopathy and homozygous splice donor variant in PLD1 gene from the UK 100,000 genomes project cohort.

As previously reviewed by Jesse Hayesmoore and agreed by the NHS Genomic Medicine Service, this gene has recently been demoted from green rating. This was because the variants previously identified from patients might not be pathogenic for a severe autosomal recessive condition, as they are frequently present in homozygous state in general populations. Hence, the rating for this gene should remain amber despite the report of this additional case.
Paediatric or syndromic cardiomyopathy v7.30 PLD1 Achchuthan Shanmugasundram Gene: pld1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.29 PLD1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 26 August 2025.
Paediatric or syndromic cardiomyopathy v7.29 PLD1 Achchuthan Shanmugasundram Phenotypes for gene: PLD1 were changed from Cardiac valvular dysplasia 1, OMIM:212093; cardiac valvular defect, developmental, MONDO:0008913; neonatal cardiomyopathy to Cardiac valvular dysplasia 1, OMIM:212093; cardiac valvular defect, developmental, MONDO:0008913; neonatal cardiomyopathy
Paediatric or syndromic cardiomyopathy v7.28 PLD1 Achchuthan Shanmugasundram Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; neonatal cardiomyopathy to Cardiac valvular dysplasia 1, OMIM:212093; cardiac valvular defect, developmental, MONDO:0008913; neonatal cardiomyopathy
Paediatric or syndromic cardiomyopathy v7.27 PLD1 Achchuthan Shanmugasundram Publications for gene: PLD1 were set to 27799408; 33645542
Paediatric or syndromic cardiomyopathy v7.26 PLD1 Achchuthan Shanmugasundram reviewed gene: PLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39472908; Phenotypes: Cardiac valvular dysplasia 1, OMIM:212093, cardiac valvular defect, developmental, MONDO:0008913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.26 NDUFA4 Achchuthan Shanmugasundram Classified gene: NDUFA4 as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.26 NDUFA4 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence.
Paediatric or syndromic cardiomyopathy v7.26 NDUFA4 Achchuthan Shanmugasundram Gene: ndufa4 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.25 NDUFA4 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 26 August 2025.
Paediatric or syndromic cardiomyopathy v7.25 NDUFA4 Achchuthan Shanmugasundram Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065; mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656
Paediatric or syndromic cardiomyopathy v7.24 NDUFA4 Achchuthan Shanmugasundram Publications for gene: NDUFA4 were set to 23746447, 29636225
Paediatric or syndromic cardiomyopathy v7.23 NDUFA4 Achchuthan Shanmugasundram reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 23746447, 38674434, 39472908; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065, mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.23 NAXD Achchuthan Shanmugasundram Classified gene: NAXD as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.23 NAXD Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >10 unrelated patients reported with biallelic NAXD variants and with 'Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2' (MIM #618321). However, the disease has a variable presentation and cardiomyopathy was reported in four unrelated patients. As this panel includes syndromic cases, this gene can be considered for promotion to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.23 NAXD Achchuthan Shanmugasundram Gene: naxd has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.22 NAXD Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NAXD.
Paediatric or syndromic cardiomyopathy v7.22 NAXD Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 25 August 2025.
Paediatric or syndromic cardiomyopathy v7.22 NAXD Achchuthan Shanmugasundram Phenotypes for gene: NAXD were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321; NAD(P)HX dehydratase deficiency, MONDO:0034121 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321; NAD(P)HX dehydratase deficiency, MONDO:0034121
Paediatric or syndromic cardiomyopathy v7.21 NAXD Achchuthan Shanmugasundram gene: NAXD was added
gene: NAXD was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410; 32462209; 39472908; 39822994
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321; NAD(P)HX dehydratase deficiency, MONDO:0034121
Review for gene: NAXD was set to GREEN
Added comment: PMID:30576410 (2019) reported six unrelated individuals with biallelic NAXD variants, and with encephalopathy precipitated by febrile illnesses. They all had severe neurological deterioration and died in early childhood. One of these six patients, who is a girl of Indian descent developed dilated cardiomyopathy and heart failure, and was identified with homozygous c.54_57delAAGA (p.Ala20Phefs*9) variant.

PMID: 32462209 (2020) reported a seven-year-old male patient that experienced rapid deterioration and after gastroenteritis and died suddenly. An autopsy imaging CT scan showed thickening of the myocardial wall and gross hypertrophic cardiomyopathy in the patient. His paternal uncle also died due to acute myocardial infarction at the age of 28. Biallelic variants (c.44delG/ p.Arg15Glnfs*3 & c.54_57delAAGA/ p.Ala20Phefs*9) were identified by WES in the patient and these variants are present in heterozygous state in the parents.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one female patient with dilated cardiomyopathy was identified with homozygous variant in NAXD gene (c.54_57del/ p.Ala20PhefsTer9).

PMID:39822994 (2024) reported a 47-month-old male patient of Chinese descent that experienced a sharp deterioration after febrile illness, causing heart failure, cardiogenic shock, and ultimately death. This patient was diagnosed with myocarditis and dilated cardiomyopathy and was identified with compound heterozygous variants in NAXD gene (c.43C>T/ p.Arg15Ter & c.781G>T/ p.Gly261Cys).

This gene has been associated with MIM #618321 in OMIM, which mentions cardiomyopathy as one of the clinical presentations that is observed in some patients.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.20 AIFM1 Achchuthan Shanmugasundram Classified gene: AIFM1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.20 AIFM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >20 unrelated patients reported with hemizygous AIFM1 variants and with Combined oxidative phosphorylation deficiency 6 (MIM #300816). However, the disease has a variable presentation and cardiomyopathy was reported in four unrelated patients. As this panel includes syndromic cases, this gene can be considered for promotion to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.20 AIFM1 Achchuthan Shanmugasundram Gene: aifm1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.19 AIFM1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: AIFM1.
Paediatric or syndromic cardiomyopathy v7.19 AIFM1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 25 August 2025.
Paediatric or syndromic cardiomyopathy v7.19 AIFM1 Achchuthan Shanmugasundram Phenotypes for gene: AIFM1 were changed from Combined oxidative phosphorylation deficiency 6, OMIM:300816 to Combined oxidative phosphorylation deficiency 6, OMIM:300816; severe X-linked mitochondrial encephalomyopathy, MONDO:0010437
Paediatric or syndromic cardiomyopathy v7.18 AIFM1 Achchuthan Shanmugasundram edited their review of gene: AIFM1: Changed phenotypes to: Combined oxidative phosphorylation deficiency 6, OMIM:300816, severe X-linked mitochondrial encephalomyopathy, MONDO:0010437
Paediatric or syndromic cardiomyopathy v7.18 AIFM1 Achchuthan Shanmugasundram gene: AIFM1 was added
gene: AIFM1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 22019070; 28967629; 34117073; 39472908
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6, OMIM:300816
Review for gene: AIFM1 was set to GREEN
Added comment: PMID:22019070 (2011) reported three siblings of Palestinian descent with early prenatal verntriculomegaly, of which two brothers were investigated further. The two brothers presented with infantile encephalomyopathy. One of them died at the age of 4 years due to cardiac failure secondary to aspiration pneumonia, and the other died at 3 months of age because of hypertrophic cardiomyopathy and aspiration pneumonia. Using linkage analysis in the family, followed by whole exome sequencing, a pathogenic variant in the AIFM1 gene was identified in patient B (c.923G > A/ p.Gly308Glu), which segregated with the disease state and was absent in 86 anonymous controls.

PMID:28967629 (2018) reported two unrelated male patients with AIFM1 variants and they displayed distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment. Cardiomyopathy was only reported in patient 2, who also displayed severe limb and palatal myoclonus, followed by ataxia, cerebellar atrophy, ophthalmoplegia, sensorineural hearing loss, and hyporeflexia. The c.422C > T (p.Thr141Ile) hemizygous variant was identified in this patient via WES and validated by Sanger sequencing and was confirmed de novo.

PMID:34117073 (2021) reported three affected males (proband, brother and maternal uncle) exhibiting severe multisystem pathology, metabolic acidosis, and early demise. Biventricular hypertrophy was observed via foetal heart echocardiogram in the proband, and by limited autopsy in the maternal uncle. A missense hemizygous AIFM1 variant (c.506C > T/ p.Pro169Leu) was identified in the proband and sibling and this variant is absent in reference population databases, as discussed in this publication.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one male patient was identified with hemizygous variant in AIFM1 gene (c.603_605del/ p.Arg201del?).

This gene is associated with Combined oxidative phosphorylation deficiency 6 (MIM #300816) in OMIM, which includes hypertrophic cardiomyopathy as one of the variable clinical presentations.
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.17 FBXL4 Achchuthan Shanmugasundram changed review comment from: PMID:23993193 (2013) reported three consanguineous families of Arab descent with homozygous FBXL4 loss-of-function mutations causing a lethal neonatal encephalopathy. The proband from family 2 presented in the first month of life with severe hypotonia, encephalopathy, cardiomyopathy, and lactic acidosis, leading to death at age 4 months. Three older siblings presented with a similar fatal, early-onset phenotype, and the proband’s mother has also suffered three miscarriages. Exome sequencing identified nonsense variant in FBXL4 (c.1303C>T/ p.(Arg435Ter)), predicting an earlier truncation of the protein than that observed in family 1.

PMID:23993194 (2013) reported nine patients from seven unrelated families with FBXL4 variants causing early-onset mitochondrial encephalomyopathy. Two of these patients were reported with cardiac phenotypes: Prenatal ultrasound revealing growth retardation and dilated lateral ventricles in patient S7 (of Bahrain Arab descent) and echocardiography revealing left ventricular heart hypertrophy in patient S8 (of European descent). Patient S7 harboured homozygous missense variant (c.1652T>A/ p.(Ile551Asn)), while patient S8 harboured compound heterozygous variants – a nonsense and a missense variant in FBXL4 gene (c.614T>C; c.106A>T/ p.(Ile205Thr); p.(Arg36Ter].

PMID:25868664 (2015) reported 21 individuals from 19 different families of various ethnic backgrounds with biallelic FBXL4 variants and early-onset encephalopathic mitochondrial DNA depletion syndrome, of which three cases were previously reported in PMID:23993194 and one case was reported in PMID:23993193. Cardiac disease was observed at first presentation in seven individuals and evolved in another patient during the course and these patients included one from PMID:23993194. Cardiomyopathy (non-progressive or hypertrophic) was reported in four of these patients, while one other patient was reported with Borderline left-ventricular hypertrophy and hyperdynamic left ventricular function.

PMID:26404457 (2016) reported a female neonate born to a French-Canadian mother with severe multisystem disease including lactic acidosis, cystic white matter lesions, cardiomyopathy, arrhythmias, and immunodeficiency. This patient was identified with homozygous frameshift variant in FBXL4 gene (c.1641_1642delTG; c.141del/ p.(Cys547Ter); p.(Asn48MetfsTer4)).

PMID:28940506 (2017) reported 37 unreported individuals and 11 previously unreported pathogenic variants in addition to review of 36 FBXL4 variants from 50 affected individuals with a total of 87 patients and 47 variants. Hypertrophic cardiomyopathy, congenital heart disease and arrhythmia were reported in 20% (15/74), 19% (14/74) and 12% (9/78) patients respectively.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one patient was identified with compound heterozygous variants in FBXL4 variants (c.1641_1642del/ p.Cys547Ter

There is also functional evidence available from mice model, where transfection of FBXL4 rescued the cardiac geometry and the mitochondrial integrity with altered mitochondrial dynamics in the adult mice model of the heart failure with preserved ejection fraction (PMID: 38359748).
Sources: Literature; to: PMID:23993193 (2013) reported three consanguineous families of Arab descent with homozygous FBXL4 loss-of-function mutations causing a lethal neonatal encephalopathy. The proband from family 2 presented in the first month of life with severe hypotonia, encephalopathy, cardiomyopathy, and lactic acidosis, leading to death at age 4 months. Three older siblings presented with a similar fatal, early-onset phenotype, and the proband’s mother has also suffered three miscarriages. Exome sequencing identified nonsense variant in FBXL4 (c.1303C>T/ p.(Arg435Ter)), predicting an earlier truncation of the protein than that observed in family 1.

PMID:23993194 (2013) reported nine patients from seven unrelated families with FBXL4 variants causing early-onset mitochondrial encephalomyopathy. Two of these patients were reported with cardiac phenotypes: Prenatal ultrasound revealing growth retardation and dilated lateral ventricles in patient S7 (of Bahrain Arab descent) and echocardiography revealing left ventricular heart hypertrophy in patient S8 (of European descent). Patient S7 harboured homozygous missense variant (c.1652T>A/ p.(Ile551Asn)), while patient S8 harboured compound heterozygous variants – a nonsense and a missense variant in FBXL4 gene (c.614T>C; c.106A>T/ p.(Ile205Thr); p.(Arg36Ter].

PMID:25868664 (2015) reported 21 individuals from 19 different families of various ethnic backgrounds with biallelic FBXL4 variants and early-onset encephalopathic mitochondrial DNA depletion syndrome, of which three cases were previously reported in PMID:23993194 and one case was reported in PMID:23993193. Cardiac disease was observed at first presentation in seven individuals and evolved in another patient during the course and these patients included one from PMID:23993194. Cardiomyopathy (non-progressive or hypertrophic) was reported in four of these patients, while one other patient was reported with Borderline left-ventricular hypertrophy and hyperdynamic left ventricular function.

PMID:26404457 (2016) reported a female neonate born to a French-Canadian mother with severe multisystem disease including lactic acidosis, cystic white matter lesions, cardiomyopathy, arrhythmias, and immunodeficiency. This patient was identified with homozygous frameshift variant in FBXL4 gene (c.1641_1642delTG; c.141del/ p.(Cys547Ter); p.(Asn48MetfsTer4)).

PMID:28940506 (2017) reported 37 unreported individuals and 11 previously unreported pathogenic variants in addition to review of 36 FBXL4 variants from 50 affected individuals with a total of 87 patients and 47 variants. Hypertrophic cardiomyopathy, congenital heart disease and arrhythmia were reported in 20% (15/74), 19% (14/74) and 12% (9/78) patients respectively.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one patient was identified with compound heterozygous variants in FBXL4 variants (c.1641_1642del/ p.Cys547Ter).

There is also functional evidence available from mice model, where transfection of FBXL4 rescued the cardiac geometry and the mitochondrial integrity with altered mitochondrial dynamics in the adult mice model of the heart failure with preserved ejection fraction (PMID: 38359748).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.17 FBXL4 Achchuthan Shanmugasundram Classified gene: FBXL4 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.17 FBXL4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >90 patients reported with biallelic FBXL4 variants and mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (MIM #615471). Of these, ~20% of patients are reported with early-onset hypertrophic cardiomyopathy. As there are >15 patients reported with cardiomyopathy, this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.17 FBXL4 Achchuthan Shanmugasundram Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.16 FBXL4 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: FBXL4.
Paediatric or syndromic cardiomyopathy v7.16 FBXL4 Achchuthan Shanmugasundram gene: FBXL4 was added
gene: FBXL4 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 23993193; 23993194; 25868664; 26404457; 28940506; 38359748; 39472908
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), OMIM:615471
Review for gene: FBXL4 was set to GREEN
Added comment: PMID:23993193 (2013) reported three consanguineous families of Arab descent with homozygous FBXL4 loss-of-function mutations causing a lethal neonatal encephalopathy. The proband from family 2 presented in the first month of life with severe hypotonia, encephalopathy, cardiomyopathy, and lactic acidosis, leading to death at age 4 months. Three older siblings presented with a similar fatal, early-onset phenotype, and the proband’s mother has also suffered three miscarriages. Exome sequencing identified nonsense variant in FBXL4 (c.1303C>T/ p.(Arg435Ter)), predicting an earlier truncation of the protein than that observed in family 1.

PMID:23993194 (2013) reported nine patients from seven unrelated families with FBXL4 variants causing early-onset mitochondrial encephalomyopathy. Two of these patients were reported with cardiac phenotypes: Prenatal ultrasound revealing growth retardation and dilated lateral ventricles in patient S7 (of Bahrain Arab descent) and echocardiography revealing left ventricular heart hypertrophy in patient S8 (of European descent). Patient S7 harboured homozygous missense variant (c.1652T>A/ p.(Ile551Asn)), while patient S8 harboured compound heterozygous variants – a nonsense and a missense variant in FBXL4 gene (c.614T>C; c.106A>T/ p.(Ile205Thr); p.(Arg36Ter].

PMID:25868664 (2015) reported 21 individuals from 19 different families of various ethnic backgrounds with biallelic FBXL4 variants and early-onset encephalopathic mitochondrial DNA depletion syndrome, of which three cases were previously reported in PMID:23993194 and one case was reported in PMID:23993193. Cardiac disease was observed at first presentation in seven individuals and evolved in another patient during the course and these patients included one from PMID:23993194. Cardiomyopathy (non-progressive or hypertrophic) was reported in four of these patients, while one other patient was reported with Borderline left-ventricular hypertrophy and hyperdynamic left ventricular function.

PMID:26404457 (2016) reported a female neonate born to a French-Canadian mother with severe multisystem disease including lactic acidosis, cystic white matter lesions, cardiomyopathy, arrhythmias, and immunodeficiency. This patient was identified with homozygous frameshift variant in FBXL4 gene (c.1641_1642delTG; c.141del/ p.(Cys547Ter); p.(Asn48MetfsTer4)).

PMID:28940506 (2017) reported 37 unreported individuals and 11 previously unreported pathogenic variants in addition to review of 36 FBXL4 variants from 50 affected individuals with a total of 87 patients and 47 variants. Hypertrophic cardiomyopathy, congenital heart disease and arrhythmia were reported in 20% (15/74), 19% (14/74) and 12% (9/78) patients respectively.

PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the 100,000 genomes project, of which one patient was identified with compound heterozygous variants in FBXL4 variants (c.1641_1642del/ p.Cys547Ter

There is also functional evidence available from mice model, where transfection of FBXL4 rescued the cardiac geometry and the mitochondrial integrity with altered mitochondrial dynamics in the adult mice model of the heart failure with preserved ejection fraction (PMID: 38359748).
Sources: Literature
Paediatric or syndromic cardiomyopathy v7.15 FLII Achchuthan Shanmugasundram changed review comment from: PMID:32870709 (2020) reported a large cohort of 205 unrelated patients with various forms of childhood-onset cardiomyopathy (CM), in which two unrelated patients of Saudi Arabian decent with infantile-onset dilated CM were identified with homozygous missense variants (p.Leu674Val & p.Arg1240Cys).

PMID:37561591 (2023) identified biallelic variants in FLII gene in three unrelated families with idiopathic, early-onset dilated CM of which two patients were the ones that were already reported in PMID:32870709. The third patient was a girl of Dutch decent that had onset of CM at around 2 months of age. This patient was identified with compound heterozygous variants (p.Gln454Ter & p.Arg1168Trp).

Introduction of patient-specific FLII variants into the zebrafish genome using CRISPR/Cas9 genome editing resulted in the manifestation of key aspects of morphological and functional abnormalities of the heart, as observed in the patients. In addition, functional studies also provided insights into the function of Flii during ventricular chamber morphogenesis that involves myocardial cell adhesion and myofibril organisation.

This gene has been associated with dilated CM phenotype in OMIM (MIM #620635).; to: PMID:32870709 (2020) reported a large cohort of 205 unrelated patients with various forms of childhood-onset cardiomyopathy (CM), in which two unrelated patients of Saudi Arabian descent with infantile-onset dilated CM were identified with homozygous missense variants (p.Leu674Val & p.Arg1240Cys).

PMID:37561591 (2023) identified biallelic variants in FLII gene in three unrelated families with idiopathic, early-onset dilated CM of which two patients were the ones that were already reported in PMID:32870709. The third patient was a girl of Dutch descent that had onset of CM at around 2 months of age. This patient was identified with compound heterozygous variants (p.Gln454Ter & p.Arg1168Trp).

Introduction of patient-specific FLII variants into the zebrafish genome using CRISPR/Cas9 genome editing resulted in the manifestation of key aspects of morphological and functional abnormalities of the heart, as observed in the patients. In addition, functional studies also provided insights into the function of Flii during ventricular chamber morphogenesis that involves myocardial cell adhesion and myofibril organisation.

This gene has been associated with dilated CM phenotype in OMIM (MIM #620635).
Paediatric or syndromic cardiomyopathy v7.15 FLII Achchuthan Shanmugasundram Classified gene: FLII as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.15 FLII Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v7.15 FLII Achchuthan Shanmugasundram Gene: flii has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.14 FLII Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: FLII.
Paediatric or syndromic cardiomyopathy v7.14 FLII Achchuthan Shanmugasundram Phenotypes for gene: FLII were changed from Dilated cardiomyopathy, MONDO:0005021 to Cardiomyopathy, dilated, 2J, OMIM:620635
Paediatric or syndromic cardiomyopathy v7.13 FLII Achchuthan Shanmugasundram Publications for gene: FLII were set to 32870709
Paediatric or syndromic cardiomyopathy v7.12 FLII Achchuthan Shanmugasundram reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: 32870709, 37561591; Phenotypes: Cardiomyopathy, dilated, 2J, OMIM:620635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.12 EYA4 Arina Puzriakova Classified gene: EYA4 as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v7.12 EYA4 Arina Puzriakova Gene: eya4 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v7.11 EYA4 Arina Puzriakova Classified gene: EYA4 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.11 EYA4 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red - only single report of a case of DCM preceded by sensorineural hearing loss (possibly) associated with a deletion in EYA4 (PMID: 10769282). No other evidence of link with DCM, only definitive association is with non-syndromic hearing loss. Association is classified as provisional in OMIM and limited in ClinGen.
Paediatric or syndromic cardiomyopathy v7.11 EYA4 Arina Puzriakova Gene: eya4 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.10 EYA4 Arina Puzriakova Phenotypes for gene: EYA4 were changed from Cardiomyopathy, dilated, 1J to ?Cardiomyopathy, dilated, 1J, OMIM:605362
Paediatric or syndromic cardiomyopathy v7.9 ASNA1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, PMID:31461301 reported the identification of compound heterozygous variants in two siblings with early infantile-onset, rapidly progressive dilated cardiomyopathy. There were two variants reported on the paternal allele (p.Cys289Trp and p.Gln305Ter) and one variant on the maternal allele (p.Val163Ala). Unaffected sibling was heterozygous for maternal allele.

Functional studies showed that Val163Ala variant leads to protein misfolding as well as less effective tail-anchored protein insertion. Loss of asna1 in zebrafish resulted in reduced cardiac contractility and early lethality. In contrast to wild-type mRNA, injection of either mutant mRNA failed to rescue this phenotype.

As there is only one case and functional evidence available in support of this association, this gene can only be rated amber now.; to: PMID:31461301 reported the identification of compound heterozygous variants in two siblings with early infantile-onset, rapidly progressive dilated cardiomyopathy. There were two variants reported on the paternal allele (p.Cys289Trp and p.Gln305Ter) and one variant on the maternal allele (p.Val163Ala). Unaffected sibling was heterozygous for maternal allele.

Functional studies showed that Val163Ala variant leads to protein misfolding as well as less effective tail-anchored protein insertion. Loss of asna1 in zebrafish resulted in reduced cardiac contractility and early lethality. In contrast to wild-type mRNA, injection of either mutant mRNA failed to rescue this phenotype.

As there is only one case and functional evidence available in support of this association, this gene can only be rated amber now.
Paediatric or syndromic cardiomyopathy v7.9 ASNA1 Achchuthan Shanmugasundram Classified gene: ASNA1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.9 ASNA1 Achchuthan Shanmugasundram Gene: asna1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.8 ASNA1 Achchuthan Shanmugasundram Phenotypes for gene: ASNA1 were changed from Rapidly Progressive Pediatric Cardiomyopathy to ?Cardiomyopathy, dilated, 2H, OMIM:620203
Paediatric or syndromic cardiomyopathy v7.7 ASNA1 Achchuthan Shanmugasundram Publications for gene: ASNA1 were set to PMID: 31461301
Paediatric or syndromic cardiomyopathy v7.6 ASNA1 Achchuthan Shanmugasundram reviewed gene: ASNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31461301; Phenotypes: ?Cardiomyopathy, dilated, 2H, OMIM:620203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v7.6 MT-TV Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Paediatric or syndromic cardiomyopathy v7.6 MT-TV Achchuthan Shanmugasundram Classified gene: MT-TV as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.6 MT-TV Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in at least three unrelated patients with variants in MT-TV gene. This gene can therefore be promoted to green rating on the next GMS update.
Paediatric or syndromic cardiomyopathy v7.6 MT-TV Achchuthan Shanmugasundram Gene: mt-tv has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram edited their review of gene: MT-TV: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: MT-TV.
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram Tag Q2_25_expert_review was removed from gene: MT-TV.
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.12
Paediatric or syndromic cardiomyopathy v7.5 MT-TV Achchuthan Shanmugasundram gene: MT-TV was added
gene: MT-TV was added to Paediatric or syndromic cardiomyopathy. Sources: Literature,Expert Review Amber
Q2_25_ promote_green, Q2_25_expert_review, Q2_25_ NHS_review tags were added to gene: MT-TV.
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Publications for gene: MT-TV were set to 15320572; 21986556; 34298071
Phenotypes for gene: MT-TV were set to MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:000504
Mode of pathogenicity for gene: MT-TV was set to Other
Paediatric or syndromic cardiomyopathy v7.4 MT-ND5 Achchuthan Shanmugasundram Classified gene: MT-ND5 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.4 MT-ND5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with variants in MT-ND5 gene.

This gene can therefore be promoted to green rating on the next GMS update.
Paediatric or syndromic cardiomyopathy v7.4 MT-ND5 Achchuthan Shanmugasundram Gene: mt-nd5 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: MT-ND5.
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram edited their review of gene: MT-ND5: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram Tag Q2_25_expert_review was removed from gene: MT-ND5.
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.9
Paediatric or syndromic cardiomyopathy v7.3 MT-ND5 Achchuthan Shanmugasundram gene: MT-ND5 was added
gene: MT-ND5 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Amber,Literature
Q2_25_ promote_green, Q2_25_expert_review, Q2_25_ NHS_review tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 14520659; 22759514; 23847141; 30587702
Phenotypes for gene: MT-ND5 were set to hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v7.2 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1.
Paediatric or syndromic cardiomyopathy v7.2 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 on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

This gene can therefore be promoted to green rating on the next GMS update.
Paediatric or syndromic cardiomyopathy v7.2 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v7.2 MT-TL1 Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.6
Paediatric or syndromic cardiomyopathy v7.2 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH,Expert Review,Expert Review Amber
locus-type-rna-transfer tags were added to gene: MT-TL1.
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 7473662; 8477849; 12874464; 14673589; 25639022; 30888501; 30133155
Phenotypes for gene: MT-TL1 were set to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2025-04-30
Paediatric or syndromic cardiomyopathy v7.0 Eleanor Williams promoted panel to version 7.0
Paediatric or syndromic cardiomyopathy v6.7 TAF1A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TAF1A.
Paediatric or syndromic cardiomyopathy v6.7 MYZAP Achchuthan Shanmugasundram Tag Q4_24_promote_green was removed from gene: MYZAP.
Paediatric or syndromic cardiomyopathy v6.7 FKRP Achchuthan Shanmugasundram Tag Q4_24_promote_green was removed from gene: FKRP.
Paediatric or syndromic cardiomyopathy v6.7 TAF1A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TAF1A.
Tag Q3_24_NHS_review was removed from gene: TAF1A.
Paediatric or syndromic cardiomyopathy v6.7 MAP3K7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAP3K7.
Tag Q3_24_NHS_review was removed from gene: MAP3K7.
Paediatric or syndromic cardiomyopathy v6.7 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ALPK3.
Tag Q3_24_MOI was removed from gene: ALPK3.
Paediatric or syndromic cardiomyopathy v6.7 MYZAP Achchuthan Shanmugasundram reviewed gene: MYZAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.7 FKRP Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.7 TAF1A Achchuthan Shanmugasundram reviewed gene: TAF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.7 MAP3K7 Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v6.7 ALPK3 Achchuthan Shanmugasundram reviewed gene: ALPK3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.6 MYZAP Achchuthan Shanmugasundram Source NHS GMS was added to MYZAP.
Source Expert Review Green was added to MYZAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v6.6 FKRP Achchuthan Shanmugasundram Source Expert Review Green was added to FKRP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v6.6 TAF1A Achchuthan Shanmugasundram Source NHS GMS was added to TAF1A.
Source Expert Review Green was added to TAF1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v6.6 MAP3K7 Achchuthan Shanmugasundram Source NHS GMS was added to MAP3K7.
Source Expert Review Green was added to MAP3K7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v6.6 ALPK3 Achchuthan Shanmugasundram Mode of inheritance for gene ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.5 ASNA1 Dmitrijs Rots gene: ASNA1 was added
gene: ASNA1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNA1 were set to PMID: 31461301
Phenotypes for gene: ASNA1 were set to Rapidly Progressive Pediatric Cardiomyopathy
Review for gene: ASNA1 was set to AMBER
Added comment: 3 families with functional evidence described in PMID: 31461301
Sources: Literature
Paediatric or syndromic cardiomyopathy v6.5 FLII Dmitrijs Rots reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37561591; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v6.5 EYA4 Dmitrijs Rots reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v6.5 MYZAP Eleanor Williams commented on gene: MYZAP: Copied this gene from R132 Dilated and arrhythmogenic cardiomyopathy since NHS GMS reviewers suggest that it is more suited to be on the R135 Paediatric or syndromic cardiomyopathy panel.

Note the MYZAP gene is part of the GRINL1A complex transcription unit, or GCOM1 gene, which also includes the downstream POLR2M gene.

Helio et al. (2021) (PMID: 34899865) - 2 Finnish families with different homozygous variants in GCOM1 in affected individuals. Probands had either DCM or arrhythmogenic right ventricular cardiomyopathy (ARVC). Note in Family 1, one family member without the variant had DCM secondary to lymphocytic myocarditis. Age at diagnosis ranged from 24 to 41.

Maver et al. (2022) (PMID: 35840178) - 2 Slovenian brothers affected by severe DCM with onset at ages 14 and 16 years. Both had a homozygous premature termination variant in MYZAP.

Ochoa et al. (2024) (PMID: 38436102) - 2 sisters of Spanish ancestry with compound heterozygous variants in MYZAP and a severe form of DCM. Neither patient had extracardiac features. Both were diagnosed in their early 30s.
Paediatric or syndromic cardiomyopathy v6.5 MYZAP Eleanor Williams Tag Q2_24_promote_green was removed from gene: MYZAP.
Tag Q4_24_promote_green tag was added to gene: MYZAP.
Paediatric or syndromic cardiomyopathy v6.5 FKRP Eleanor Williams Tag Q4_24_promote_green tag was added to gene: FKRP.
Paediatric or syndromic cardiomyopathy v6.5 MYZAP Eleanor Williams Entity copied from Dilated and arrhythmogenic cardiomyopathy v2.36
Paediatric or syndromic cardiomyopathy v6.5 MYZAP Eleanor Williams gene: MYZAP was added
gene: MYZAP was added to Paediatric or syndromic cardiomyopathy. Sources: Other,Expert Review Amber
Q2_24_promote_green tags were added to gene: MYZAP.
Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627; 24698889
Phenotypes for gene: MYZAP were set to Dilated cardiomyopathy, MONDO:0005021; Cardiomyopathy, dilated, 2K, OMIM:620894
Penetrance for gene: MYZAP were set to unknown
Mode of pathogenicity for gene: MYZAP was set to Other
Paediatric or syndromic cardiomyopathy v6.4 FKRP Eleanor Williams Publications for gene: FKRP were set to
Paediatric or syndromic cardiomyopathy v6.3 FKRP Eleanor Williams commented on gene: FKRP
Paediatric or syndromic cardiomyopathy v6.3 KBTBD13 Achchuthan Shanmugasundram Classified gene: KBTBD13 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v6.3 KBTBD13 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although three unrelated families and evidence from mouse model are available in support of the association, all cases were reported with the same founder variant. Hence, this gene should be rated amber with the current evidence.
Paediatric or syndromic cardiomyopathy v6.3 KBTBD13 Achchuthan Shanmugasundram Gene: kbtbd13 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v6.2 KBTBD13 Achchuthan Shanmugasundram Phenotypes for gene: KBTBD13 were changed from to Nemaline myopathy 6, autosomal dominant, OMIM:609273; intrinsic cardiomyopathy, MONDO:0000591
Paediatric or syndromic cardiomyopathy v6.1 KBTBD13 Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: None; Publications: 36335629; Phenotypes: Nemaline myopathy 6, autosomal dominant, OMIM:609273, intrinsic cardiomyopathy, MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2024-10-30
Paediatric or syndromic cardiomyopathy v6.0 Sarah Leigh promoted panel to version 6.0
Paediatric or syndromic cardiomyopathy v5.13 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Paediatric or syndromic cardiomyopathy v5.13 CASZ1 Arina Puzriakova Tag gene-checked tag was added to gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.13 CAMK2D Arina Puzriakova Tag gene-checked tag was added to gene: CAMK2D.
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains green.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. GLHs agree that additional supportive evidence is needed.
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.13 PLD1 Eleanor Williams Gene: pld1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Tag Q2_24_NHS_review was removed from gene: PLD1.
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams Tag Q2_24_MOI was removed from gene: NEXN.
Tag Q2_24_NHS_review was removed from gene: NEXN.
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams Tag Q2_24_promote_green was removed from gene: MT-TI.
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams Tag Q2_24_promote_green was removed from gene: CASZ1.
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams Tag Q2_24_promote_green was removed from gene: CAMK2D.
Paediatric or syndromic cardiomyopathy v5.12 PLD1 Eleanor Williams commented on gene: PLD1
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams reviewed gene: NEXN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.12 MT-TI Eleanor Williams reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v5.12 CASZ1 Eleanor Williams reviewed gene: CASZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v5.12 CAMK2D Eleanor Williams reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v5.11 NEXN Eleanor Williams Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.11 MT-TI Eleanor Williams Source Expert Review Green was added to MT-TI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CASZ1 Eleanor Williams Source NHS GMS was added to CASZ1.
Source Expert Review Green was added to CASZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.11 CAMK2D Eleanor Williams Source NHS GMS was added to CAMK2D.
Source Expert Review Green was added to CAMK2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Tag Q3_24_MOI tag was added to gene: ALPK3.
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh Publications for gene: ALPK3 were set to
Paediatric or syndromic cardiomyopathy v5.9 TAF1A Sarah Leigh Classified gene: TAF1A as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.9 TAF1A Sarah Leigh Gene: taf1a has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.8 TAF1A Sarah Leigh Added comment: Comment on phenotypes: PMID: 27878435 reports Congenital cataract and global developmental delay
Paediatric or syndromic cardiomyopathy v5.8 TAF1A Sarah Leigh Phenotypes for gene: TAF1A were changed from Congenital cataract and global developmental delay to Paediatric dilated cardiomyopathy
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TAF1A.
Tag Q3_24_NHS_review tag was added to gene: TAF1A.
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh edited their review of gene: TAF1A: Added comment: Biallelic TAF1A variants have been associated with dilated cardiomyopathy. To date, five missense TAF1A variants and a 1.62Mb deletion (that includes the TAF1A gene) have been reported in three unrelated cases of childhood dilated cardiomyopathy (PMIDs 28472305; 29367541; 37501913, personal communication from Genomics Clinical Fellow). The unaffected parents of these cases were all heterozygous for the relevant TAF1A variant. A stable knockout of the single taf1a zebrafish homolog, was used to generate homozygous embryos, which mirrored the heart failure phenotype beginning at 6 days post-fertilization (PMID: 28472305).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh changed review comment from: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018; to: Comment on publications: The case reported in PMID: 37501913, seems to be the same patient that has been reported in an abstract from from the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Added comment: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Publications for gene: TAF1A were set to 27878435
Paediatric or syndromic cardiomyopathy v5.6 TAF1A Sarah Leigh Entity copied from Bilateral congenital or childhood onset cataracts v5.1
Paediatric or syndromic cardiomyopathy v5.6 TAF1A Sarah Leigh gene: TAF1A was added
gene: TAF1A was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1A were set to 27878435
Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAP3K7.
Tag Q3_24_NHS_review tag was added to gene: MAP3K7.
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh edited their review of gene: MAP3K7: Added comment: At least 15 MAP3K7 variants have been associated with Cardiospondylocarpofacial syndrome (OMIM:157800)(PMID: 35730652;34687574;29467388;27426734). The publications report that the MAP3K7 variants were de novo in 16/18 cases (one variant was inherited from the affected father and one was not maternal and the paternal sample was not available (PMID: 35730652).; Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh Publications for gene: MAP3K7 were set to 35730652; 34687574
Paediatric or syndromic cardiomyopathy v5.4 MAP3K7 Sarah Leigh Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 to Cardiospondylocarpofacial syndrome, OMIM:157800
Paediatric or syndromic cardiomyopathy v5.3 MAP3K7 Sarah Leigh Classified gene: MAP3K7 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.3 MAP3K7 Sarah Leigh Gene: map3k7 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.2 MAP3K7 Sarah Leigh gene: MAP3K7 was added
gene: MAP3K7 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 35730652; 34687574
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137
Review for gene: MAP3K7 was set to AMBER
Added comment: Sources: Expert Review
Paediatric or syndromic cardiomyopathy v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07
Paediatric or syndromic cardiomyopathy v5.0 Arina Puzriakova promoted panel to version 5.0
Paediatric or syndromic cardiomyopathy v4.10 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.8 CAMK2D Achchuthan Shanmugasundram changed review comment from: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature; to: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Paediatric or syndromic cardiomyopathy v4.8 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Q2_24_promote_green tags were added to gene: CAMK2D.
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; dilated cardiomyopathy, MONDO:0005021
Mode of pathogenicity for gene: CAMK2D was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CAMK2D was set to GREEN
Added comment: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Hannah Robinson, there is sufficient evidence available for updating the MOI from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Mode of inheritance for gene: NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: PMID:32058062 - One male foetus was reported with compound heterozygous NEXN variants (c.1756A > T & c.1909_1912del) and dilated cardiomyopathy.

PMID:33027564 - One case was identified with dilated and hypertrophic cardiomyopathy and with compound heterozygous NEXN variants (p.Arg216Ter & p.Lys536fs). However, it was not possible to determine the phase (whether cis or trans) on the basis of exome sequencing.

PMID:33949776 - One patient presented with fetal hydrops at 33  weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2 weeks when therapy was withdrawn. Homozygous c.1174C > T (p.Arg392Ter) variant in the NEXN gene was identified in this patient.

PMID:35166435 - A female from a four-generation Swedish family comprising 42 individuals had three three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Homozygous NEXN variant (c.1302del/ p.Ile435Serfs*3) was identified in these foetuses.

In addition to these peer reviewed cases, additional biallelic cases were reported in the following reports: 10.1016/j.jsha.2013.03.180 & 10.1016/j.gimo.2023.100620.

The phenotypes associated with monoallelic variants are already reported in OMIM. However, phenotypes associated with biallelic variants are not yet reported either in OMIM or in Gene2Phenotype.; Changed publications to: 32058062, 33027564, 33949776, 35166435
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32058062, 32058062, 35166435; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases reported with infantile-onset/ paediatric-onset cardiomyopathy and hence this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.5 MT-TI Achchuthan Shanmugasundram Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Paediatric or syndromic cardiomyopathy v4.4 MT-TI Achchuthan Shanmugasundram Publications for gene: MT-TI were set to
Paediatric or syndromic cardiomyopathy v4.3 MT-TI Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-TI.
Paediatric or syndromic cardiomyopathy v4.3 MT-TI Achchuthan Shanmugasundram reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Eleanor Williams Tag gene-checked tag was added to gene: CAP2.
Paediatric or syndromic cardiomyopathy v4.3 NEXN Hannah Robinson reviewed gene: NEXN: Rating: ; Mode of pathogenicity: None; Publications: 35166435, 33949776, 33027564, 32058062; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v4.3 SLC22A5 Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v4.3 TAB2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TAB2.
Paediatric or syndromic cardiomyopathy v4.3 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Paediatric or syndromic cardiomyopathy v4.3 LDB3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LDB3.
Paediatric or syndromic cardiomyopathy v4.3 ELAC2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ELAC2.
Tag Q3_23_NHS_review was removed from gene: ELAC2.
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CAP2.
Paediatric or syndromic cardiomyopathy v4.3 TAB2 Sarah Leigh edited their review of gene: TAB2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v4.3 SLC22A5 Sarah Leigh commented on gene: SLC22A5: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v4.3 LETM1 Sarah Leigh commented on gene: LETM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v4.3 LDB3 Sarah Leigh reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.3 ELAC2 Sarah Leigh reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Sarah Leigh reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.2 TAB2 Achchuthan Shanmugasundram Source Expert Review Green was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 SLC22A5 Achchuthan Shanmugasundram Mode of inheritance for gene SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.2 LETM1 Achchuthan Shanmugasundram Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 LDB3 Achchuthan Shanmugasundram Source Expert Review Green was added to LDB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 ELAC2 Achchuthan Shanmugasundram Source NHS GMS was added to ELAC2.
Source Expert Review Green was added to ELAC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 CAP2 Achchuthan Shanmugasundram Source NHS GMS was added to CAP2.
Source Expert Review Green was added to CAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-05-01
Paediatric or syndromic cardiomyopathy v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Paediatric or syndromic cardiomyopathy v3.47 PLD1 Arina Puzriakova Classified gene: PLD1 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v3.47 PLD1 Arina Puzriakova Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Paediatric or syndromic cardiomyopathy v3.47 PLD1 Arina Puzriakova Gene: pld1 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v3.46 PLD1 Arina Puzriakova Tag Q2_24_demote_red tag was added to gene: PLD1.
Tag Q2_24_expert_review tag was added to gene: PLD1.
Tag Q2_24_NHS_review tag was added to gene: PLD1.
Paediatric or syndromic cardiomyopathy v3.46 CASZ1 Achchuthan Shanmugasundram Classified gene: CASZ1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.46 CASZ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ludmila Volozonoka, there is sufficient evidence available (three unrelated cases and some functional studies) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v3.46 CASZ1 Achchuthan Shanmugasundram Gene: casz1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.45 CASZ1 Achchuthan Shanmugasundram Phenotypes for gene: CASZ1 were changed from Pediatric Dilated Cardiomyopathy; Pediatric LVNC to dilated cardiomyopathy, MONDO:0005021; left ventricular noncompaction, MONDO:0018901
Paediatric or syndromic cardiomyopathy v3.44 CASZ1 Achchuthan Shanmugasundram changed review comment from: PMID:28099117 reported a patient with a novel heterozygous CASZ1 variant (p.K351X) and with dilated cardiomyopathy (DCM). The variant co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The functional characterisation of the variant with a luciferase reporter assay showed that the variant had no transcriptional activity.

PMID:31268246 reported the identification of a previously unreported de novo heterozygous frameshift variant (p.Val815Profs*14) in CASZ1 in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC).

PMID:36293425 reported a girl with a new de novo frameshift variant (p.Trp1261GlyfsTer29) in CASZ1 gene. DCM was diagnosed for the first time at the age of three months and she died at the age of 1 year 10 months with a diagnosis of dilated cardiomyopathy and decompensation, systemic multiple organ failure, post-anoxic brain damage and gastrointestinal and vaginal bleeding.; to: PMID:28099117 reported a patient with a novel heterozygous CASZ1 variant (p.K351X) and with dilated cardiomyopathy (DCM). The variant co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The functional characterisation of the variant with a luciferase reporter assay showed that the variant had no transcriptional activity.

PMID:31268246 reported the identification of a previously unreported de novo heterozygous frameshift variant (p.Val815Profs*14) in CASZ1 in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC).

PMID:36293425 reported a girl with a new de novo frameshift variant (p.Trp1261GlyfsTer29) in CASZ1 gene. DCM was diagnosed for the first time at the age of three months and she died at the age of 1 year 10 months with a diagnosis of dilated cardiomyopathy and decompensation, systemic multiple organ failure, post-anoxic brain damage and gastrointestinal and vaginal bleeding.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Paediatric or syndromic cardiomyopathy v3.44 CASZ1 Achchuthan Shanmugasundram edited their review of gene: CASZ1: Changed phenotypes to: dilated cardiomyopathy, MONDO:0005021, left ventricular noncompaction, MONDO:0018901
Paediatric or syndromic cardiomyopathy v3.44 CASZ1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CASZ1.
Paediatric or syndromic cardiomyopathy v3.44 CASZ1 Achchuthan Shanmugasundram reviewed gene: CASZ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28099117, 31268246, 36293425; Phenotypes: dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.43 CASZ1 Ludmila Volozonoka gene: CASZ1 was added
gene: CASZ1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASZ1 were set to 36293425; 31268246; 28099117; 27693370; 37509718
Phenotypes for gene: CASZ1 were set to Pediatric Dilated Cardiomyopathy; Pediatric LVNC
Review for gene: CASZ1 was set to GREEN
Added comment: Loss of Function variants described in patients with pediatric dilated cardiomyopathy, pediatric LVNC (36293425; 31268246). Our laboratory identified the LOF variant in a pediatric patient with LVNC.

The limited implication in congenital ventricular septal defect (27693370) - authors identified a missense variant.

Review article on CASZ1 (37509718).
Sources: Literature
Paediatric or syndromic cardiomyopathy v3.43 PLD1 Jesse Hayesmoore changed review comment from: On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines. ; to: On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines.
Paediatric or syndromic cardiomyopathy v3.43 PLD1 Jesse Hayesmoore changed review comment from: On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign). Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.; to: On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines.
Paediatric or syndromic cardiomyopathy v3.43 PLD1 Jesse Hayesmoore reviewed gene: PLD1: Rating: RED; Mode of pathogenicity: Other; Publications: PMIDs: 27799408 and 33645542; Phenotypes: Paediatric cardiomyopathy, cardiac valvular defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v3.43 RRAGC Achchuthan Shanmugasundram Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy, hepatopathy and brain abnormalities to Long-Olsen syndrome, OMIM:620609
Paediatric or syndromic cardiomyopathy v3.42 RRAGC Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Long-Olsen syndrome, OMIM:620609; Mode of inheritance: None
Paediatric or syndromic cardiomyopathy v3.42 RRAGC Achchuthan Shanmugasundram Tag gene-checked was removed from gene: RRAGC.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Tag Q4_23_MOI tag was added to gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Added comment: Comment on mode of inheritance: Changing the mode of inheritance back to Both monoallelic and biallelic as this is what it is on the last signed off version of the panel (v3.0) and no change in mode of inheritance has been agreed. Also adding a tag to propose that the mode of inheritance should be changed to biallelic as proposed by Sarah Leigh.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.38 RRAGC Eleanor Williams Tag gene-checked tag was added to gene: RRAGC.
Paediatric or syndromic cardiomyopathy v3.38 RRAGC Eleanor Williams commented on gene: RRAGC
Paediatric or syndromic cardiomyopathy v3.38 PPP1R13L Arina Puzriakova Phenotypes for gene: PPP1R13L were changed from sudden cardiac death; cardio-cutaneous syndrome to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Paediatric or syndromic cardiomyopathy v3.37 PPP1R13L Arina Puzriakova Tag gene-checked was removed from gene: PPP1R13L.
Paediatric or syndromic cardiomyopathy v3.37 TBX20 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TBX20.
Tag Q2_23_NHS_review was removed from gene: TBX20.
Paediatric or syndromic cardiomyopathy v3.37 RRAGC Arina Puzriakova Tag Q2_23_promote_green was removed from gene: RRAGC.
Tag Q2_23_NHS_review was removed from gene: RRAGC.
Paediatric or syndromic cardiomyopathy v3.37 TBX20 Arina Puzriakova reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.37 RRAGC Arina Puzriakova edited their review of gene: RRAGC: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.36 TBX20 Arina Puzriakova Source NHS GMS was added to TBX20.
Source Expert Review Green was added to TBX20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v3.36 RRAGC Arina Puzriakova Source Expert Review Green was added to RRAGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CAP2.
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Classified gene: CAP2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.35 CAP2 Achchuthan Shanmugasundram Gene: cap2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.34 CAP2 Achchuthan Shanmugasundram Phenotypes for gene: CAP2 were changed from Cardiomyopathy, dilated, 2I (MIM#620462) to Cardiomyopathy, dilated, 2I, OMIM:620462
Paediatric or syndromic cardiomyopathy v3.33 CAP2 Achchuthan Shanmugasundram reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I, OMIM:620462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.33 LDB3 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal".; to: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal" and the rating should be updated to green in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.33 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493; dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v3.32 LDB3 Achchuthan Shanmugasundram Publications for gene: LDB3 were set to
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram edited their review of gene: LDB3: Changed publications to: 16427346, 17097056, 36253531; Changed phenotypes to: Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493, dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, there are five unrelated cases reported with biallelic LDB3 variants and lethal paediatric dilated cardiomyopathy in PMID:36253531. It was also reported that these biallelic loss-of-function variants lead to an early-onset and more severe phenotype of cardiomyopathy and myopathy.

Monoallelic variants in LDB3 are associated with dilated cardiomyopathy with or without left ventricular noncompaction in both OMIM (MIM #601493) and Gene2Phenotype (with 'limited' rating in the DD panel). Two unrelated families reported in PMID:16427346, of which twin sisters from a family presented with isolated LVNC shortly after the brith, while male proband from second family was diagnosed at 13 years of age. The six unrelated patients with hypertrophic cardiomyopathy were diagnosed in the third to seventh decades of life.; to: As reviewed by Dmitrijs Rots, there are five unrelated cases reported with biallelic LDB3 variants and lethal paediatric dilated cardiomyopathy in PMID:36253531. It was also reported that these biallelic loss-of-function variants lead to an early-onset and more severe phenotype of cardiomyopathy and myopathy.

Monoallelic variants in LDB3 are associated with dilated cardiomyopathy with or without left ventricular noncompaction in both OMIM (MIM #601493) and Gene2Phenotype (with 'limited' rating in the DD panel). Two unrelated families reported in PMID:16427346, of which twin sisters from a family presented with isolated LVNC shortly after the brith, while male proband from second family was diagnosed at 13 years of age. The six unrelated patients with hypertrophic cardiomyopathy were diagnosed in the third to seventh decades of life (PMID:17097056).
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of biallelic variants to paediatric dilated cardiomyopathy with green rating. However, only two unrelated cases with monoallelic variants had early-onset dilated Cardiomyopathy. Hence, the MOI should be changed to "BIALLELIC, autosomal or pseudoautosomal".
Paediatric or syndromic cardiomyopathy v3.31 LDB3 Achchuthan Shanmugasundram Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: LDB3.
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16427346, 36253531; Phenotypes: dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 CAP2 Zornitza Stark gene: CAP2 was added
gene: CAP2 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four individuals from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Literature
Paediatric or syndromic cardiomyopathy v3.30 LDB3 Dmitrijs Rots reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.30 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Paediatric or syndromic cardiomyopathy v3.29 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Classified gene: ELAC2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for the promotion of this gene to green rating in the next GMS review.
Paediatric or syndromic cardiomyopathy v3.28 ELAC2 Achchuthan Shanmugasundram Gene: elac2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.27 ELAC2 Achchuthan Shanmugasundram Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, OMIM:615440
Paediatric or syndromic cardiomyopathy v3.26 ELAC2 Achchuthan Shanmugasundram Publications for gene: ELAC2 were set to PMID: 23849775
Paediatric or syndromic cardiomyopathy v3.25 ELAC2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ELAC2.
Tag Q3_23_NHS_review tag was added to gene: ELAC2.
Paediatric or syndromic cardiomyopathy v3.25 ELAC2 Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775; Phenotypes: Combined oxidative phosphorylation deficiency 17, OMIM:615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), cardiomyopathy (5/14, 36%)(PMID: 36055214, figure 1c).
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Paediatric or syndromic cardiomyopathy v3.25 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review,Expert Review Amber
Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1.
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214; 33815143
Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Paediatric or syndromic cardiomyopathy v3.24 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Paediatric or syndromic cardiomyopathy v3.23 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from DCM; Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; HCM, mixed; Carnitine transporter deficiency (primary carnitine deficiency) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Deleted their comment
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be change from monoallelic to biallelic at the next major review of the panel.
Paediatric or syndromic cardiomyopathy v3.22 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v3.21 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 24816252; 27604308
Paediatric or syndromic cardiomyopathy v3.20 NAA10 Achchuthan Shanmugasundram Classified gene: NAA10 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.20 NAA10 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases with paediatric-onset hypertrophic cardiomyopathy. Hence, this gene should be rated amber.
Paediatric or syndromic cardiomyopathy v3.20 NAA10 Achchuthan Shanmugasundram Gene: naa10 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.19 NAA10 Achchuthan Shanmugasundram gene: NAA10 was added
gene: NAA10 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NAA10 were set to 29748569
Phenotypes for gene: NAA10 were set to Ogden syndrome, OMIM:300855
Review for gene: NAA10 was set to AMBER
Added comment: PMID:29748569 reported the identification of previously undescribed NAA10 variant (c.215T>C; p.Ile72Thr) in three boys from two unrelated families with a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants. These boys had developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

This gene has been associated with Ogden syndrome in both OMIM ands Gene2Phenotype and the OMIM record includes hypertrophic cardiomyopathy and other cardiac abnormalities as clinical manifestations of this disorder.
Sources: Literature
Paediatric or syndromic cardiomyopathy v3.18 NAA15 Achchuthan Shanmugasundram Publications for gene: NAA15 were set to
Paediatric or syndromic cardiomyopathy v3.17 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from to hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v3.16 NAA15 Achchuthan Shanmugasundram Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.15 NAA15 Achchuthan Shanmugasundram changed review comment from: PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).; to: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated c cases reported with paediatric hypertrophic cardiomyopathy.

PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.

Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.

Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).
Paediatric or syndromic cardiomyopathy v3.15 NAA15 Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.15 TAB2 Arina Puzriakova Classified gene: TAB2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.15 TAB2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Paediatric or syndromic cardiomyopathy v3.15 TAB2 Arina Puzriakova Gene: tab2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.14 TAB2 Arina Puzriakova Mode of inheritance for gene: TAB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v3.13 TAB2 Arina Puzriakova Publications for gene: TAB2 were set to
Paediatric or syndromic cardiomyopathy v3.12 TAB2 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: TAB2.
Paediatric or syndromic cardiomyopathy v3.12 TAB2 Arina Puzriakova edited their review of gene: TAB2: Changed publications to: 28464518, 29700987, 32183715, 34456334, 34990405, 34741306, 36000780, 37153890; Changed phenotypes to: Congenital heart defects, nonsyndromic, 2, OMIM:614980
Paediatric or syndromic cardiomyopathy v3.12 TAB2 Arina Puzriakova reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: Congenital heart defects, nonsyndromic, 2, OMIM:614980; Phenotypes: 28464518, 29700987, 32183715, 34456334, 34990405, 34741306, 36000780, 37153890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v3.12 ELAC2 Matthew Edwards gene: ELAC2 was added
gene: ELAC2 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to PMID: 23849775
Penetrance for gene: ELAC2 were set to unknown
Review for gene: ELAC2 was set to GREEN
Added comment: Oxidative phosphorylation deficiency-17 manifests as severe infantile-onset hypertrophic cardiomyopathy (green gene on several metabolic panels, but presenting feature is HCM in first year of life)

Also recent diagnostic case through our GLH
Sources: Expert Review
Paediatric or syndromic cardiomyopathy v3.12 RRAGC Arina Puzriakova Classified gene: RRAGC as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.12 RRAGC Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Robinson (South West Genomic Laboratory Hub). Sufficient evidence to promote this gene to Green at the next GMS panel update.
Paediatric or syndromic cardiomyopathy v3.12 RRAGC Arina Puzriakova Gene: rragc has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.11 RRAGC Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RRAGC.
Tag Q2_23_NHS_review tag was added to gene: RRAGC.
Paediatric or syndromic cardiomyopathy v3.11 RRAGC Arina Puzriakova Phenotypes for gene: RRAGC were changed from to Dilated cardiomyopathy, hepatopathy and brain abnormalities
Paediatric or syndromic cardiomyopathy v3.10 RRAGC Arina Puzriakova Publications for gene: RRAGC were set to 27234373
Paediatric or syndromic cardiomyopathy v3.9 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Paediatric or syndromic cardiomyopathy v3.8 UQCC2 Arina Puzriakova Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Paediatric or syndromic cardiomyopathy v3.7 NDUFB3 Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Mitochondrial complex I deficiency, nuclear type 25, 618246 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Paediatric or syndromic cardiomyopathy v3.6 NDUFA6 Arina Puzriakova Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, 618253 to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Paediatric or syndromic cardiomyopathy v3.5 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
Paediatric or syndromic cardiomyopathy v3.4 RRAGC Hannah Robinson gene: RRAGC was added
gene: RRAGC was added to Paediatric or syndromic cardiomyopathy. Sources: NHS GMS,Literature
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 27234373
Penetrance for gene: RRAGC were set to unknown
Review for gene: RRAGC was set to GREEN
gene: RRAGC was marked as current diagnostic
Added comment: Newborn patient reported with syndromic DCM ventricular dilation and systolic dysfunction, bilateral cataracts, and mild facial dysmorphisms with de novo missense variant in RRAGC (PMID: 27234373). Subsequently, three unrelated patients reported with de novo variants in this gene displayed DCM and hepatopathy, plus brain anomalies including pachygyria,
polymicrogyria, and septo-optic dysplasia (https://doi.org/10.1016/j.gim.2023.100838, PMID not yet available). Additional patient identified through R14 WGS in Exeter Genomics Laboratory.
Sources: NHS GMS, Literature
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TBX20.
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TBX20.
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram changed review comment from: One of the patients reported in PMID:30384889 was identified with an autosomal dominant variant in TBX20 (p.M224V) and was presented with left ventricular noncompaction (LVNC) cardiomyopathy and IgA deficiency. The age of onset of LVNC in this patient was 9 years of age.

PMID:35282022 reported a 6 year old patient with LVNC identified with a de novo variant (p.Arg287Trp) in TBX20 gene.

PMID:17668378 reported two families with congenital heart defects, in which affected individuals carried heterozygous variants in TBX20 gene. Individuals from one of these families (with p.Gln195Ter variant) presented with dilated cardiomyopathy in addition to congenital heart defects.; to: One of the patients reported in PMID:30384889 was identified with an autosomal dominant variant in TBX20 (p.M224V) and was presented with left ventricular noncompaction (LVNC) cardiomyopathy and IgA deficiency. The age of onset of LVNC in this patient was 9 years of age. PMID:35282022 reported a 6 year old patient with LVNC identified with a de novo variant (p.Arg287Trp) in TBX20 gene. These two cases fit well with paediatric cardiomyopathy as both cases are of childhood onset (<12 years of age at onset).

In addition to cases reviewed by Matthew Edwards, PMID:17668378 also reported two families with congenital heart defects, in which affected individuals carried heterozygous variants in TBX20 gene. Individuals from one of these families (with p.Gln195Ter variant) presented with dilated cardiomyopathy in addition to congenital heart defects. All these cases with wide spectrum of phenotypes including cardiomyopathy and congenital hart defects fits well with syndromic cardiomyopathy.
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram Classified gene: TBX20 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be associated with paediatric or syndromic cardiomyopathy and hence should be promoted to green at the next major review.
Paediatric or syndromic cardiomyopathy v3.4 TBX20 Achchuthan Shanmugasundram Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v3.3 TBX20 Achchuthan Shanmugasundram Publications for gene: TBX20 were set to PMID: 33585493; PMID: 275101702, PMID: 28798025; PMID: 32600061, PMID: 22080862
Paediatric or syndromic cardiomyopathy v3.2 TBX20 Achchuthan Shanmugasundram Phenotypes for gene: TBX20 were changed from Cardiomyopathy, dilated with or without LVNC; Atrial septal defect, congential heart disease to Atrial septal defect 4, OMIM:611363; Cardiomyopathy, dilated with or without LVNC; Atrial septal defect, congential heart disease
Paediatric or syndromic cardiomyopathy v3.1 TBX20 Achchuthan Shanmugasundram edited their review of gene: TBX20: Changed phenotypes to: Atrial septal defect 4, OMIM:611363
Paediatric or syndromic cardiomyopathy v3.1 TBX20 Achchuthan Shanmugasundram edited their review of gene: TBX20: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v3.1 TBX20 Achchuthan Shanmugasundram reviewed gene: TBX20: Rating: ; Mode of pathogenicity: None; Publications: 17668378, 30384889, 35282022; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.1 TBX20 Matthew Edwards gene: TBX20 was added
gene: TBX20 was added to Paediatric or syndromic cardiomyopathy. Sources: Other
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX20 were set to PMID: 33585493; PMID: 275101702, PMID: 28798025; PMID: 32600061, PMID: 22080862
Phenotypes for gene: TBX20 were set to Cardiomyopathy, dilated with or without LVNC; Atrial septal defect, congential heart disease
Penetrance for gene: TBX20 were set to unknown
Review for gene: TBX20 was set to GREEN
Added comment: TBX20 encodes transcription factors involved in the regulation of several important aspects of cardiac development and homeostasis and heart function. Pathogenic variants in TBX20 are widely associated with the complex spectrum of congenital heart defects and it has also been reported in association with dilated cardiomyopathies and heart arrhythmia (PMID: 33585493)
Although loss of function (LoF) has not been clearly established as a disease mechanism for TBX20 in dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), several LoF alterations have been reported in individuals with these conditions, segregating with disease in several families (PMID: 275101702, PMID: 28798025). In addition mouse model studies have shown that mutant mice with conditional Tbx20 ablation in adult cardiomyocytes have dilated hearts with a rapid loss of systolic function and slower conduction and severe arrhythmia (PMID: 32600061, PMID: 22080862). A functional study ofa truncating variant identified in a DCM case, revealed that the truncated TBX20 protein had no transcriptional activity in contrast to its wild-type counterpart, which further supports the previous mouse model findings and LoF as a disease mechanism for DCM/LVNC (PMID: 275101702).
Sources: Other
Paediatric or syndromic cardiomyopathy v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2023-03-22
Paediatric or syndromic cardiomyopathy v3.0 Arina Puzriakova promoted panel to version 3.0
Paediatric or syndromic cardiomyopathy v2.10 Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Paediatric or syndromic cardiomyopathy v2.9 Arina Puzriakova Panel name changed from Cardiomyopathies - including childhood onset to Paediatric or syndromic cardiomyopathy
List of related panels changed from Paediatric or syndromic cardiomyopathy; R135 to Cardiomyopathies - including childhood onset; R135
Paediatric or syndromic cardiomyopathy v2.8 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v2.8 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two cases with cardiac defects and they harbour the same homozygous variant. In addition, functional studies from patient fibroblasts showed that these variants impair mitochondrial function.
Paediatric or syndromic cardiomyopathy v2.8 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v2.7 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Combined oxidative phosphorylation deficiency 57, OMIM:620167
Review for gene: CRLS1 was set to AMBER
Added comment: Three individuals from two unrelated families were identified with the same homozygous variant in CRLS1 (p.Ile109Asn). They presented with a mitochondrial disorder characterized by an evolving pattern of cardiomyopathy, encephalopathy, bilateral auditory neuropathy spectrum disorder, bull’s eye maculopathy, diabetes insipidus, autonomic instability and low complex IV activity in skeletal muscle.

Of these, patient from family 1 had left ventricular noncompaction and biventricular systolic dysfunction, as diagnosed by echocardiogram at 2 days of life, which evolved to hypertrophic cardiomyopathy by 7 weeks of age. The ECG of second patient from family 2 (patient II:3) demonstrated evere biventricular dysfunction, which subsequently improved, while the other patient from the same family with the variant did not exhibit any cardiac phenotype./

A fourth individual was identified with a compound heterozygous CRLS1 variant (p.Ala172Asp/ p.Leu217Phe) that presented with developmental regression beginning in late infancy, with acquired microcephaly, sensorineural hearing loss and impaired vision. This patient did not show any cardiac phenotype.

Functional studies using patient-derived fibroblasts provide evidence that CRLS1 variants cause mitochondrial disease.
Sources: Literature
Paediatric or syndromic cardiomyopathy v2.6 SPRED2 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPRED2.
Paediatric or syndromic cardiomyopathy v2.6 LMOD2 Arina Puzriakova Tag Q2_22_rating was removed from gene: LMOD2.
Tag Q2_22_NHS_review was removed from gene: LMOD2.
Paediatric or syndromic cardiomyopathy v2.6 RRAGD Arina Puzriakova Tag Q3_22_rating was removed from gene: RRAGD.
Paediatric or syndromic cardiomyopathy v2.6 SPRED2 Arina Puzriakova reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v2.6 LMOD2 Arina Puzriakova reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v2.6 RRAGD Arina Puzriakova reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v2.5 SPRED2 Arina Puzriakova Source Expert Review Green was added to SPRED2.
Source NHS GMS was added to SPRED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v2.5 RRAGD Arina Puzriakova Source Expert Review Green was added to RRAGD.
Source NHS GMS was added to RRAGD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v2.5 LMOD2 Arina Puzriakova Source Expert Review Green was added to LMOD2.
Source NHS GMS was added to LMOD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v2.4 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Paediatric or syndromic cardiomyopathy v2.3 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
Paediatric or syndromic cardiomyopathy v2.2 SCN5A Arina Puzriakova Publications for gene: SCN5A were set to 24317018; doi:10. 1007/ s12265-016-9673-5
Paediatric or syndromic cardiomyopathy v2.1 KBTBD13 Dmitrijs Rots gene: KBTBD13 was added
gene: KBTBD13 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KBTBD13 were set to 36335629
Penetrance for gene: KBTBD13 were set to Incomplete
Mode of pathogenicity for gene: KBTBD13 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KBTBD13 was set to GREEN
Added comment: 3 families with cardiomyopathy and other related cardiac phenotypes reported in 36335629 with mouse model. Enough evidence for green. All cases had p.R408C variant.
Sources: Literature
Paediatric or syndromic cardiomyopathy v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Paediatric or syndromic cardiomyopathy v2.0 Arina Puzriakova promoted panel to version 2.0
Paediatric or syndromic cardiomyopathy v1.83 TAB2 Arina Puzriakova Phenotypes for gene: TAB2 were changed from to Congenital heart defects, nonsyndromic, 2, OMIM:614980
Paediatric or syndromic cardiomyopathy v1.82 HFE Arina Puzriakova Phenotypes for gene: HFE were changed from DCM; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Haemochromatosis; Hemochromatosis, 235200; Hemochromatosis; HCM to Hemochromatosis, OMIM:235200; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy
Paediatric or syndromic cardiomyopathy v1.81 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Naxos disease, OMIM:601214; Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Paediatric or syndromic cardiomyopathy v1.80 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 to Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Paediatric or syndromic cardiomyopathy v1.79 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Paediatric or syndromic cardiomyopathy v1.78 SDHA Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'biallelic' only to 'both mono- and biallelic' as cardiomyopathy has also been shown to be a feature associated with heterozygous variants in this gene (PMID: 27683074)
Paediatric or syndromic cardiomyopathy v1.78 SDHA Arina Puzriakova Mode of inheritance for gene: SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v1.77 RRAGD Eleanor Williams Tag Q3_22_NHS_review was removed from gene: RRAGD.
Paediatric or syndromic cardiomyopathy v1.77 RRAGD Eleanor Williams commented on gene: RRAGD: Copied this gene from the Renal tubulopathies panel. In 6 cases reported in PMID: 34607910 (Schlingmann et al 2021) the probands also had dilated cardiomyopathy. The 6 patients with Dilated cardiomyopathy were diagnosed with the condition at ages between 6 months and 14 years old.
Paediatric or syndromic cardiomyopathy v1.77 RRAGD Eleanor Williams Entity copied from Renal tubulopathies v2.62
Paediatric or syndromic cardiomyopathy v1.77 RRAGD Eleanor Williams gene: RRAGD was added
gene: RRAGD was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber
Q3_22_rating, Q3_22_NHS_review tags were added to gene: RRAGD.
Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGD were set to 34607910
Phenotypes for gene: RRAGD were set to hypomagnesaemia; cardiomyopathy; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Penetrance for gene: RRAGD were set to Complete
Mode of pathogenicity for gene: RRAGD was set to Other
Paediatric or syndromic cardiomyopathy v1.76 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC; Cardiomyopathy, familial hypertrophic, 20, to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, hypertrophic, 20, OMIM:613876
Paediatric or syndromic cardiomyopathy v1.75 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Paediatric or syndromic cardiomyopathy v1.74 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from to CACNA1C-related disorder
Paediatric or syndromic cardiomyopathy v1.73 LMOD2 Ivone Leong Phenotypes for gene: LMOD2 were changed from dilated cardiomyopathy to dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.72 LMOD2 Ivone Leong Tag Q2_22_NHS_review tag was added to gene: LMOD2.
Paediatric or syndromic cardiomyopathy v1.72 LMOD2 Ivone Leong Tag Q2_22_rating tag was added to gene: LMOD2.
Paediatric or syndromic cardiomyopathy v1.72 LMOD2 Ivone Leong Classified gene: LMOD2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.72 LMOD2 Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Faculty of Health, University of Plymouth). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the expert review this gene should be rated Green at the next review as there is enough evidence to support a gene-disease association.
Paediatric or syndromic cardiomyopathy v1.72 LMOD2 Ivone Leong Gene: lmod2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.71 LMOD2 Ivone Leong Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052
Paediatric or syndromic cardiomyopathy v1.70 TAZ Arina Puzriakova commented on gene: TAZ
Paediatric or syndromic cardiomyopathy v1.70 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Paediatric or syndromic cardiomyopathy v1.70 NRAP Arina Puzriakova Tag gene-checked tag was added to gene: NRAP.
Paediatric or syndromic cardiomyopathy v1.70 MYLK3 Arina Puzriakova Tag gene-checked tag was added to gene: MYLK3.
Paediatric or syndromic cardiomyopathy v1.70 LMOD2 Julia Baptista gene: LMOD2 was added
gene: LMOD2 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052
Phenotypes for gene: LMOD2 were set to dilated cardiomyopathy
Review for gene: LMOD2 was set to GREEN
Added comment: Biallelic loss of function variants reported in four families to date. Three with homozygous variants and one compound heterozygous. Frameshift, canonical splice site and nonsense variants reported. Null mice model recapitulates the human phenotype of severe neonatal-onset cardiomyopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.70 PPP1R13L Eleanor Williams Tag gene-checked tag was added to gene: PPP1R13L.
Paediatric or syndromic cardiomyopathy v1.70 MYH6 Sarah Leigh Publications for gene: MYH6 were set to
Paediatric or syndromic cardiomyopathy v1.69 MYH6 Sarah Leigh Phenotypes for gene: MYH6 were changed from Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14 to Atrial septal defect 3, OMIM:614089; Cardiomyopathy, dilated, 1EE OMIM:613252; Cardiomyopathy, hypertrophic, 14, OMIM:613251; {Sick sinus syndrome 3}, OMIM:614090
Paediatric or syndromic cardiomyopathy v1.68 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Paediatric or syndromic cardiomyopathy v1.68 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Paediatric or syndromic cardiomyopathy v1.67 TMEM126B Ivone Leong commented on gene: TMEM126B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SURF1 Ivone Leong commented on gene: SURF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SGCD Ivone Leong commented on gene: SGCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHD Ivone Leong commented on gene: SDHD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHA Ivone Leong commented on gene: SDHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 SDHAF1 Ivone Leong commented on gene: SDHAF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 PNPLA2 Ivone Leong commented on gene: PNPLA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NUBPL Ivone Leong commented on gene: NUBPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NF1 Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFV1 Ivone Leong commented on gene: NDUFV1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS7 Ivone Leong commented on gene: NDUFS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS6 Ivone Leong commented on gene: NDUFS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS4 Ivone Leong commented on gene: NDUFS4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS3 Ivone Leong commented on gene: NDUFS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFS1 Ivone Leong commented on gene: NDUFS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFB3 Ivone Leong commented on gene: NDUFB3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA10 Ivone Leong commented on gene: NDUFA10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 NDUFA1 Ivone Leong commented on gene: NDUFA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 LRPPRC Ivone Leong commented on gene: LRPPRC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 IDS Ivone Leong commented on gene: IDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 HCN4 Ivone Leong commented on gene: HCN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 GLB1 Ivone Leong commented on gene: GLB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 FAH Ivone Leong commented on gene: FAH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 COX20 Ivone Leong commented on gene: COX20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 CBL Ivone Leong commented on gene: CBL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 BRAF Ivone Leong commented on gene: BRAF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATPAF2 Ivone Leong commented on gene: ATPAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ATP5D Ivone Leong commented on gene: ATP5D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 ARSB Ivone Leong commented on gene: ARSB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.67 AGL Ivone Leong commented on gene: AGL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 TMEM126B Ivone Leong Source Expert Review Amber was added to TMEM126B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SURF1 Ivone Leong Source Expert Review Amber was added to SURF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SGCD Ivone Leong Source Expert Review Amber was added to SGCD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHD Ivone Leong Source Expert Review Amber was added to SDHD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHA Ivone Leong Source Expert Review Amber was added to SDHA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 SDHAF1 Ivone Leong Source Expert Review Amber was added to SDHAF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 PNPLA2 Ivone Leong Source Expert Review Amber was added to PNPLA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NUBPL Ivone Leong Source Expert Review Amber was added to NUBPL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NF1 Ivone Leong Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFV1 Ivone Leong Source Expert Review Amber was added to NDUFV1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS7 Ivone Leong Source Expert Review Amber was added to NDUFS7.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS6 Ivone Leong Source Expert Review Amber was added to NDUFS6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS4 Ivone Leong Source Expert Review Amber was added to NDUFS4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS3 Ivone Leong Source Expert Review Amber was added to NDUFS3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFS1 Ivone Leong Source Expert Review Amber was added to NDUFS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFB3 Ivone Leong Source Expert Review Amber was added to NDUFB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF5 Ivone Leong Source Expert Review Amber was added to NDUFAF5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF4 Ivone Leong Source Expert Review Amber was added to NDUFAF4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF3 Ivone Leong Source Expert Review Amber was added to NDUFAF3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFAF2 Ivone Leong Source Expert Review Amber was added to NDUFAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA10 Ivone Leong Source Expert Review Amber was added to NDUFA10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 NDUFA1 Ivone Leong Source Expert Review Amber was added to NDUFA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 LRPPRC Ivone Leong Source Expert Review Amber was added to LRPPRC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 IDS Ivone Leong Source Expert Review Amber was added to IDS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 HCN4 Ivone Leong Source Expert Review Amber was added to HCN4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 GLB1 Ivone Leong Source Expert Review Amber was added to GLB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 FAH Ivone Leong Source Expert Review Amber was added to FAH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 COX20 Ivone Leong Source Expert Review Amber was added to COX20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 CBL Ivone Leong Source Expert Review Amber was added to CBL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 BRAF Ivone Leong Source Expert Review Amber was added to BRAF.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATPAF2 Ivone Leong Source Expert Review Amber was added to ATPAF2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ATP5D Ivone Leong Source Expert Review Amber was added to ATP5D.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 ARSB Ivone Leong Source Expert Review Amber was added to ARSB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.66 AGL Ivone Leong Source Expert Review Amber was added to AGL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.65 SPEG Ivone Leong Tag Q2_21_rating was removed from gene: SPEG.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L Ivone Leong Tag Q2_21_rating was removed from gene: RPL3L.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 RNF220 Ivone Leong Tag Q4_21_rating was removed from gene: RNF220.
Paediatric or syndromic cardiomyopathy v1.65 RNF220 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 PLD1 Ivone Leong Tag Q2_21_rating was removed from gene: PLD1.
Paediatric or syndromic cardiomyopathy v1.65 PDLIM3 Ivone Leong Tag Q2_21_rating was removed from gene: PDLIM3.
Paediatric or syndromic cardiomyopathy v1.65 NRAP Ivone Leong Tag Q2_21_rating was removed from gene: NRAP.
Paediatric or syndromic cardiomyopathy v1.65 MYLK3 Ivone Leong Tag Q2_21_rating was removed from gene: MYLK3.
Paediatric or syndromic cardiomyopathy v1.65 MIB1 Ivone Leong Tag Q2_21_rating was removed from gene: MIB1.
Paediatric or syndromic cardiomyopathy v1.65 FLII Ivone Leong Tag Q2_21_rating was removed from gene: FLII.
Paediatric or syndromic cardiomyopathy v1.65 COX6B1 Ivone Leong Tag Q2_21_rating was removed from gene: COX6B1.
Paediatric or syndromic cardiomyopathy v1.65 COX14 Ivone Leong Tag Q2_21_rating was removed from gene: COX14.
Paediatric or syndromic cardiomyopathy v1.65 SPEG Ivone Leong commented on gene: SPEG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 RPL3L Ivone Leong commented on gene: RPL3L: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 RNF220 Ivone Leong commented on gene: RNF220: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 PLD1 Ivone Leong commented on gene: PLD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 PDLIM3 Ivone Leong commented on gene: PDLIM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 NRAP Ivone Leong commented on gene: NRAP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 MYLK3 Ivone Leong commented on gene: MYLK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 MIB1 Ivone Leong commented on gene: MIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 FLII Ivone Leong commented on gene: FLII: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Paediatric or syndromic cardiomyopathy v1.65 COX6B1 Ivone Leong commented on gene: COX6B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.65 COX14 Ivone Leong commented on gene: COX14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.64 SPEG Ivone Leong Source Expert Review Green was added to SPEG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 PLD1 Ivone Leong Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 PDLIM3 Ivone Leong Source Expert Review Amber was added to PDLIM3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 NRAP Ivone Leong Source Expert Review Green was added to NRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 MYLK3 Ivone Leong Source Expert Review Green was added to MYLK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.64 MIB1 Ivone Leong Source Expert Review Amber was added to MIB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 COX6B1 Ivone Leong Source Expert Review Amber was added to COX6B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.64 COX14 Ivone Leong Source Expert Review Amber was added to COX14.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong Tag for-review was removed from gene: TOR1AIP1.
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong Tag for-review was removed from gene: SHMT2.
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong Tag for-review was removed from gene: FNIP1.
Paediatric or syndromic cardiomyopathy v1.63 MRAS Ivone Leong Tag for-review was removed from gene: MRAS.
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong commented on gene: TOR1AIP1: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong commented on gene: SHMT2: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong commented on gene: FNIP1: Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) or R15 immunodeficiency but not on R135"
Paediatric or syndromic cardiomyopathy v1.63 TOR1AIP1 Ivone Leong commented on gene: TOR1AIP1
Paediatric or syndromic cardiomyopathy v1.63 SHMT2 Ivone Leong commented on gene: SHMT2
Paediatric or syndromic cardiomyopathy v1.63 MRAS Ivone Leong commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.63 FNIP1 Ivone Leong commented on gene: FNIP1
Paediatric or syndromic cardiomyopathy v1.62 MRAS Ivone Leong Source Expert Review Green was added to MRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v1.61 SPRED2 Ivone Leong Entity copied from Intellectual disability v3.1496
Paediatric or syndromic cardiomyopathy v1.61 SPRED2 Ivone Leong gene: SPRED2 was added
gene: SPRED2 was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber
Q1_22_rating tags were added to gene: SPRED2.
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Paediatric or syndromic cardiomyopathy v1.60 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110
Paediatric or syndromic cardiomyopathy v1.59 MIB1 Ivone Leong Tag Q2_21_NHS_review was removed from gene: MIB1.
Paediatric or syndromic cardiomyopathy v1.59 CRYAB Arina Puzriakova Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v1.58 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869; Cardiomyopathy, dilated, 1II, to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810
Paediatric or syndromic cardiomyopathy v1.57 GSN Ivone Leong Classified gene: GSN as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.57 GSN Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

PMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is >50 years. Cardiomyopathy does not appear to be a presenting feature.

Therefore, this gene has been given an Amber rating.
Paediatric or syndromic cardiomyopathy v1.57 GSN Ivone Leong Gene: gsn has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.56 RNF220 Ivone Leong Phenotypes for gene: RNF220 were changed from Intellectual disability, MONDO:0001071 to Dilated cardiomyopathy,MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.55 RNF220 Ivone Leong Tag Q4_21_rating tag was added to gene: RNF220.
Paediatric or syndromic cardiomyopathy v1.55 RNF220 Ivone Leong changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 cases for this gene; however, 3 of the cases described in PMID:33964137 are of Roma descent and haplotype analysis has shown that the variant found in these families are due to a founder effect (c.1094G>A, p.Arg365Gly). A separate Roma family also has the same variant (c.1094G>A, p.Arg365Gly). An Italian family with similar phenotypes has a different variant (c.1088G>A, p.Arg363Gly). The authors also report on in vitro and in vivo studies.

There is enough evidence to support a gene-disease association; however, the ID severity in these patients do not meet the criteria (moderate to severe) for this panel (patients show mild (mostly) to moderate severity). Therefore, this gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis. This gene is currently not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 cases for this gene; however, 3 of the cases described in PMID:33964137 are of Roma descent and haplotype analysis has shown that the variant found in these families are due to a founder effect (c.1094G>A, p.Arg365Gly). A separate Roma family also has the same variant (c.1094G>A, p.Arg365Gly). An Italian family with similar phenotypes has a different variant (c.1088G>A, p.Arg363Gly). The authors also report on in vitro and in vivo studies.

There is enough evidence to support a gene-disease association. Therefore, this gene should be Green at the next review.
Paediatric or syndromic cardiomyopathy v1.55 RNF220 Ivone Leong Entity copied from Intellectual disability v3.1329
Paediatric or syndromic cardiomyopathy v1.55 RNF220 Ivone Leong gene: RNF220 was added
gene: RNF220 was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber,Other
Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF220 were set to 33964137; 10881263
Phenotypes for gene: RNF220 were set to Intellectual disability, MONDO:0001071
Penetrance for gene: RNF220 were set to Complete
Paediatric or syndromic cardiomyopathy v1.54 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from DCM; Glycogen Storage Disease Type IV; Hypertrophic-hypocontractile cardiomyopathy; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease IV, 232500 to Glycogen storage disease IV, OMIM:232500
Paediatric or syndromic cardiomyopathy v1.53 KIF20A Ivone Leong Classified gene: KIF20A as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v1.53 KIF20A Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 29357359 describes 1 family with 2 affect sibs. The authors also made a zebrafish MO model, which had a progressive cardiac phenotype starting at 48 hpf. Currently, there is insufficient evidence to support a gene-disease association. Therefore this gene has been given a Red rating.
Paediatric or syndromic cardiomyopathy v1.53 KIF20A Ivone Leong Gene: kif20a has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v1.52 KIF20A Ivone Leong Phenotypes for gene: KIF20A were changed from Cardiomyopathy, familial restrictive, 6, MIM# 619433 to ?Cardiomyopathy, familial restrictive, 6, OMIM:619433
Paediatric or syndromic cardiomyopathy v1.51 KIF20A Zornitza Stark gene: KIF20A was added
gene: KIF20A was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF20A were set to 29357359
Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433
Review for gene: KIF20A was set to RED
Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.51 GSN Ivone Leong Phenotypes for gene: GSN were changed from Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia to Amyloidosis, Finnish type, OMIM:105120; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy, MONDO:0004994; arrhythmia
Paediatric or syndromic cardiomyopathy v1.50 GSN Ivone Leong Publications for gene: GSN were set to PMID: 33499149; PMID:26339870
Paediatric or syndromic cardiomyopathy v1.49 GSN Dmitrijs Rots gene: GSN was added
gene: GSN was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to PMID: 33499149; PMID:26339870
Phenotypes for gene: GSN were set to Amyloidosis; cranial neuropathy; peripheral neuropathy; cutis laxa; cardiomyopathy; arrhytmia
Penetrance for gene: GSN were set to Incomplete
Review for gene: GSN was set to GREEN
gene: GSN was marked as current diagnostic
Added comment: Causes Amyloidosis, Finnish type with multisystem involvement. Cardiomyopathy reported in >6% of patients and arrhytmia (without specifying types) in >30% from >200-individual large cohort from Finland. PMID:26339870.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.49 ACTA1 Ivone Leong commented on gene: ACTA1: Reviewed a number of publications about the association of ACTA1 with cardiomyopathy. All affected patients have heterozygous variants in ACTA1. Therefore, MOI should stay as Monoallelic.
Paediatric or syndromic cardiomyopathy v1.49 ACTA1 Ivone Leong Publications for gene: ACTA1 were set to 26888179; 16945537; 32969603
Paediatric or syndromic cardiomyopathy v1.48 ACTA1 Ivone Leong Publications for gene: ACTA1 were set to 26888179; 16945537
Paediatric or syndromic cardiomyopathy v1.47 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310 to Dilated cardiomyopathy, MONDO:0005021; Hypertrophic cardiomyopathy, MONDO:0005045; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
Paediatric or syndromic cardiomyopathy v1.46 ACTA1 Ivone Leong Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Paediatric or syndromic cardiomyopathy v1.45 SLC30A5 Ivone Leong Classified gene: SLC30A5 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.45 SLC30A5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Paediatric or syndromic cardiomyopathy v1.45 SLC30A5 Ivone Leong Gene: slc30a5 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.44 SLC30A5 Ivone Leong Tag watchlist tag was added to gene: SLC30A5.
Paediatric or syndromic cardiomyopathy v1.44 SLC30A5 Ivone Leong Phenotypes for gene: SLC30A5 were changed from Perinatal lethal cardiomyopathy to Perinatal lethal cardiomyopathy; cardiomyopathy, MONDO:0004994
Paediatric or syndromic cardiomyopathy v1.43 SLC30A5 Zornitza Stark gene: SLC30A5 was added
gene: SLC30A5 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919
Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy
Review for gene: SLC30A5 was set to AMBER
Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.43 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
Paediatric or syndromic cardiomyopathy v1.42 SPEG Ivone Leong Tag Q2_21_rating tag was added to gene: SPEG.
Paediatric or syndromic cardiomyopathy v1.42 SPEG Ivone Leong Classified gene: SPEG as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.42 SPEG Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. DCM is are reported in some of the reported cases (>3 cases). This gene has enough evidence to support a gene-disease association. This gene should be Green at the next review.
Paediatric or syndromic cardiomyopathy v1.42 SPEG Ivone Leong Gene: speg has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.41 SPEG Ivone Leong Publications for gene: SPEG were set to 32925938; 33794647
Paediatric or syndromic cardiomyopathy v1.40 SPEG Ivone Leong Phenotypes for gene: SPEG were changed from Dilated cardiomyopathy; centronuclear myopathy to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959
Paediatric or syndromic cardiomyopathy v1.39 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 32925938; 33794647
Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy
Review for gene: SPEG was set to GREEN
Added comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.39 NRAP Ivone Leong Classified gene: NRAP as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.39 NRAP Ivone Leong Gene: nrap has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.38 NRAP Ivone Leong gene: NRAP was added
gene: NRAP was added to Cardiomyopathies - including childhood onset. Sources: Literature
Q2_21_rating tags were added to gene: NRAP.
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021 Edit
Review for gene: NRAP was set to GREEN
Added comment: This gene is Green on the Dilated cardiomyopathy - adult and teen (Version 1.22) with the following reviews:

"This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene and having DCM. https://doi.org/10.1101/2020.10.12.20211474 also describes a CRISPR knockout zebrafish which had a cardiac phenotype. Therefore, there is enough evidence to support a gene-disease association and this gene is recommended to be promoted Green at the next panel review. Sources: Literature
Ivone Leong (Genomics England Curator), 25 Feb 2021"

"Twenty unrelated families reported with childhood onset DCM. May be more appropriate for the paediatric cardiomyopathy panel."

As affected individuals have childhood onset DCM it was deemed appropriate to add this gene to this panel as well.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.37 RHBDF1 Ivone Leong Tag watchlist tag was added to gene: RHBDF1.
Paediatric or syndromic cardiomyopathy v1.37 RHBDF1 Ivone Leong Classified gene: RHBDF1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.37 RHBDF1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Paediatric or syndromic cardiomyopathy v1.37 RHBDF1 Ivone Leong Gene: rhbdf1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.36 RHBDF1 Ivone Leong Phenotypes for gene: RHBDF1 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.35 MYLK3 Ivone Leong Classified gene: MYLK3 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.35 MYLK3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype on OMIM or Gene2Phenotype.

PMID: 29235529 describes 2 families with heterozygous variant in this gene. Family A - 2 sibs diagnosed with DCM at 9 and 10 months of age and affected mother diagnosed with DCM at 40 yo. As the children had a more severe phenotype and earlier onset than the mother the authors did further analysis and found the sibs had an additional variant in FLNC, which is also linked to DCM. The authors suggest this additional variant could account for the more severe phenotype in the children.

Family B - 2 brothers diagnosed with DCM at 56 and 52 yo, both have a heterozygous frameshift variant in this gene. Mother and sister had died young and DCM diagnosis is inconclusive.

PMID: 30690923 describes another case. Proband has a heterozygous frameshift variant in this gene. Rest of the family have no cardiac phenotype and no variants in this gene except for one daughter. Daughter has the same variant and has dilation of LV and ST-T abnormalities but these do not meet the criteria for DCM.

PMID: 32870709 describes three consanguineous families with homozygous variants in this gene.

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.35 MYLK3 Ivone Leong Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.34 MYLK3 Ivone Leong Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Paediatric or syndromic cardiomyopathy v1.33 MYLK3 Ivone Leong Tag Q2_21_rating tag was added to gene: MYLK3.
Paediatric or syndromic cardiomyopathy v1.33 MYLK3 Ivone Leong Phenotypes for gene: MYLK3 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.32 MCM10 Ivone Leong Classified gene: MCM10 as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v1.32 MCM10 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. Therefore this gene has been given a Red rating.
Paediatric or syndromic cardiomyopathy v1.32 MCM10 Ivone Leong Gene: mcm10 has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v1.31 MCM10 Ivone Leong Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Restrictive cardiomyopathy, MONDO:0005201
Paediatric or syndromic cardiomyopathy v1.30 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM10 were set to 33712616
Phenotypes for gene: MCM10 were set to Restrictive cardiomyopathy
Review for gene: MCM10 was set to RED
Added comment: PMID 33712616: three affected sibs with restrictive cardiomyopathy and hypoplasia of the spleen and thymus. Functional data suggested that MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.30 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.30 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Classified gene: FLII as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.29 FLII Ivone Leong Tag Q2_21_rating tag was added to gene: FLII.
Paediatric or syndromic cardiomyopathy v1.29 FLII Ivone Leong Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Gene: pld1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.27 PLD1 Ivone Leong Tag Q2_21_rating tag was added to gene: PLD1.
Paediatric or syndromic cardiomyopathy v1.27 PLD1 Ivone Leong Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy to Cardiac valvular defect, developmental, OMIM:212093; neonatal cardiomyopathy
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.25 RPL3L Ivone Leong Tag Q2_21_rating tag was added to gene: RPL3L.
Paediatric or syndromic cardiomyopathy v1.25 RPL3L Ivone Leong Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.24 MIB1 Ivone Leong commented on gene: MIB1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene has been tagged and will be submitted to the GMS specialist group for review.
Paediatric or syndromic cardiomyopathy v1.24 MIB1 Ivone Leong Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, OMIM:615092
Paediatric or syndromic cardiomyopathy v1.23 MIB1 Ivone Leong Publications for gene: MIB1 were set to
Paediatric or syndromic cardiomyopathy v1.22 MIB1 Ivone Leong Tag Q2_21_rating tag was added to gene: MIB1.
Tag Q2_21_NHS_review tag was added to gene: MIB1.
Paediatric or syndromic cardiomyopathy v1.22 COX6B1 Ivone Leong commented on gene: COX6B1: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.
Paediatric or syndromic cardiomyopathy v1.22 COX6B1 Ivone Leong Tag Q2_21_rating tag was added to gene: COX6B1.
Paediatric or syndromic cardiomyopathy v1.22 COX14 Ivone Leong Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, OMIM:220110
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong Tag Q2_21_rating tag was added to gene: COX14.
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong commented on gene: COX14: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong Publications for gene: COX14 were set to
Paediatric or syndromic cardiomyopathy v1.20 PDLIM3 Ivone Leong Publications for gene: PDLIM3 were set to 25163546
Paediatric or syndromic cardiomyopathy v1.19 PDLIM3 Ivone Leong Tag Q2_21_rating tag was added to gene: PDLIM3.
Paediatric or syndromic cardiomyopathy v1.19 PDLIM3 Ivone Leong edited their review of gene: PDLIM3: Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Variants in this gene seem to confer susceptibility to DCM but may not directly cause it (PMID: 17254821; 31424159). Therefore, this gene should be downgraded from Green to Amber/Red.; Changed publications: 17254821, 31424159
Paediatric or syndromic cardiomyopathy v1.19 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to GREEN
Added comment: Two unrelated families reported with homozygous missense variants in PMID 32870709.

Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin.
Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes.

We are aware of a third family ascertained through our laboratory.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.19 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408; 33645542
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Review for gene: PLD1 was set to GREEN
gene: PLD1 was marked as current diagnostic
Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.19 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v1.19 MRAS Arina Puzriakova Phenotypes for gene: MRAS were changed from Noonan syndrome, 618499 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786
Paediatric or syndromic cardiomyopathy v1.18 RPL3L Zornitza Stark gene: RPL3L was added
gene: RPL3L was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
gene: RPL3L was marked as current diagnostic
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.18 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Paediatric or syndromic cardiomyopathy v1.17 SHMT2 Arina Puzriakova Classified gene: SHMT2 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.17 SHMT2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).
Paediatric or syndromic cardiomyopathy v1.17 SHMT2 Arina Puzriakova Gene: shmt2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.16 SHMT2 Arina Puzriakova changed review comment from: PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5).

Other features include dysmorphism, congenital microcephaly, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Some functional data indicating variants result in impaired SHMT2 enzymatic function.
Sources: Literature; to: PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Age of diagnosis of hypertrophic cardiomyopathy ranged from 3 years to 16 years of age.

Other features include dysmorphism, congenital microcephaly, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Some functional data indicating variants result in impaired SHMT2 enzymatic function.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.16 SHMT2 Arina Puzriakova commented on gene: SHMT2: SHMT2 is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'SHMT2-related neurodevelopmental syndrome', and is also associated with 'Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, MIM# 619121' in OMIM.
Paediatric or syndromic cardiomyopathy v1.16 SHMT2 Arina Puzriakova gene: SHMT2 was added
gene: SHMT2 was added to Cardiomyopathies - including childhood onset. Sources: Literature
for-review tags were added to gene: SHMT2.
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Review for gene: SHMT2 was set to GREEN
Added comment: PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5).

Other features include dysmorphism, congenital microcephaly, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Some functional data indicating variants result in impaired SHMT2 enzymatic function.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.15 TOR1AIP1 Arina Puzriakova Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.15 TOR1AIP1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).
Paediatric or syndromic cardiomyopathy v1.15 TOR1AIP1 Arina Puzriakova Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.14 TOR1AIP1 Arina Puzriakova gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
for-review tags were added to gene: TOR1AIP1.
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 27342937; 32055997; 25425325
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM, but currently not in Gene2Phenotype.

At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here.

Muscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. Additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).

Age of onset for cardiomyopathy was variable ranging from childhood to adulthood.

-----
Note that one additional homozygous case (3-year-old boy) has been reported with what is thought to be a discrete phenotype characterised by progressive dystonia, cerebellar atrophy, and dilated cardiomyopathy (PMID: 25425325)
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.13 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1, to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
Paediatric or syndromic cardiomyopathy v1.12 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Paediatric or syndromic cardiomyopathy v1.11 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
Paediatric or syndromic cardiomyopathy v1.10 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
Paediatric or syndromic cardiomyopathy v1.9 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v1.9 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v1.9 PDLIM3 Zornitza Stark changed review comment from: PMID: 30681346 assessed as LIMITED by ClinGen working group.

PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense; to: PMID: 30681346 assessed as LIMITED by ClinGen working group. Note gene is rated RED on multiple other panels.

PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense
Paediatric or syndromic cardiomyopathy v1.9 PDLIM3 Zornitza Stark reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: None; Publications: 30681346, 26455666, 20801532; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v1.9 FNIP1 Arina Puzriakova Tag for-review tag was added to gene: FNIP1.
Paediatric or syndromic cardiomyopathy v1.9 FNIP1 Arina Puzriakova Classified gene: FNIP1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.9 FNIP1 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least 5 unrelated cases with hypertrophic cardiomyopathy associated with biallelic FNIP1 variants, as well as supportive functional data and animal model.
Paediatric or syndromic cardiomyopathy v1.9 FNIP1 Arina Puzriakova Gene: fnip1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.8 FNIP1 Arina Puzriakova gene: FNIP1 was added
gene: FNIP1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.7 MRAS Ivone Leong Classified gene: MRAS as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.7 MRAS Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is also Green on the RASopathies panel (v 1.61).

Review copied from RASopathies panel:
"Associated with Noonan syndrome in OMIM and G2P (confirmed). PMID: 28289718 (2017) - In two unrelated patients with Noonan syndrome and cardiac hypertrophy, trio WES/targeted sequencing revealed de novo missense variants (c.68G>T, p.G23V and c.203C>T, p.T68I) in the MRAS gene. Functional studies of the p.Gly23Val variant showed the change yields a constitutively active form of MRAS.

PMID: 31173466 (2019) - One patient with a severe a Noonan syndrome phenotype, associated with a de novo MRAS variant (c.212A>G, p.Q71R). Functional studies were not performed.

PMID: 31108500 (2020) - Two unrelated patients with Noonan syndrome, including hypertrophic cardiomyopathy and dysmorphic features. Targeted sequencing revealed de novo activating MRAS variants (c.203C>T, p.T68I and c.67G>C, p.G23R). Functional studies demonstrated that the variants yields a constitutively active form of MRAS.
Arina Puzriakova (Genomics England Curator), 4 Aug 2020"

Therefore, this gene will be promoted to Green status at the next major review.
Paediatric or syndromic cardiomyopathy v1.7 MRAS Ivone Leong Gene: mras has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.6 MRAS Ivone Leong Tag for-review tag was added to gene: MRAS.
Paediatric or syndromic cardiomyopathy v1.6 MRAS Ivone Leong Phenotypes for gene: MRAS were changed from Noonan syndrome, MIM#618499 to Noonan syndrome, 618499
Paediatric or syndromic cardiomyopathy v1.5 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499
Mode of pathogenicity for gene: MRAS was set to Other
Review for gene: MRAS was set to GREEN
gene: MRAS was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported.
Sources: Expert list
Paediatric or syndromic cardiomyopathy v1.5 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Paediatric or syndromic cardiomyopathy v1.5 Sarah Leigh Panel version has been signed off
Paediatric or syndromic cardiomyopathy v1.3 PDLIM3 Eleanor Williams Added comment: Comment on publications: Adding PMID: 25163546 Haas et al 2015 Atlas of the clinical genetics of human dilated cardiomyopathy. Reports a frameshift variant in PDLIM3
Paediatric or syndromic cardiomyopathy v1.3 PDLIM3 Eleanor Williams Publications for gene: PDLIM3 were set to
Paediatric or syndromic cardiomyopathy v1.1 CACNA1C Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected.
Paediatric or syndromic cardiomyopathy v1.1 CACNA1C Ivone Leong Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v1.0 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Paediatric or syndromic cardiomyopathy v1.0 MUT Louise Daugherty commented on gene: MUT
Paediatric or syndromic cardiomyopathy v1.0 ATP5D Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D.
Paediatric or syndromic cardiomyopathy v1.0 Ivone Leong promoted panel to version 1.0
Paediatric or syndromic cardiomyopathy v0.63 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Paediatric or syndromic cardiomyopathy v0.62 TTR Ivone Leong Classified gene: TTR as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.62 TTR Ivone Leong Gene: ttr has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.61 TTR Ivone Leong Publications for gene: TTR were set to
Paediatric or syndromic cardiomyopathy v0.60 TTR Ivone Leong changed review comment from: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; to: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.60 TTR Ivone Leong edited their review of gene: TTR: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.60 FHOD3 Ivone Leong Classified gene: FHOD3 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.60 FHOD3 Ivone Leong Gene: fhod3 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.59 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Cardiomyopathies - including childhood onset. Sources: Expert list
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Review for gene: FHOD3 was set to GREEN
Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert list
Paediatric or syndromic cardiomyopathy v0.58 EMD Ivone Leong Classified gene: EMD as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.58 EMD Ivone Leong Gene: emd has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.57 EMD Ivone Leong changed review comment from: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; to: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.57 EMD Ivone Leong edited their review of gene: EMD: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Classified gene: CSRP3 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Gene: csrp3 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.56 CDH2 Ivone Leong Classified gene: CDH2 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.56 CDH2 Ivone Leong Gene: cdh2 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.55 CDH2 Ivone Leong gene: CDH2 was added
gene: CDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert list
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDH2 was set to GREEN
Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert list
Paediatric or syndromic cardiomyopathy v0.54 HGSNAT Ivone Leong Publications for gene: HGSNAT were set to 27604308
Paediatric or syndromic cardiomyopathy v0.53 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.53 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.53 NDUFB8 Ivone Leong edited their review of gene: NDUFB8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.53 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore promoted it from Red status to Green.; Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.53 MMACHC Ivone Leong edited their review of gene: MMACHC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.52 CACNA1C Ivone Leong gene: CACNA1C was added
gene: CACNA1C was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CACNA1C was set to
Paediatric or syndromic cardiomyopathy v0.52 MT-TI Ivone Leong gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Paediatric or syndromic cardiomyopathy v0.52 NDUFA1 Ivone Leong Source Expert Review Green was added to NDUFA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.52 NDUFB8 Ivone Leong Source Expert Review Amber was added to NDUFB8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.52 MMACHC Ivone Leong Source Expert Review Amber was added to MMACHC.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.51 NAA15 Ivone Leong Mode of inheritance for gene: NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.50 GATA6 Ivone Leong Mode of inheritance for gene: GATA6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.49 FKRP Ivone Leong Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.48 ANK2 Ivone Leong Mode of inheritance for gene: ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.47 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Paediatric or syndromic cardiomyopathy v0.46 TNNI3K Ivone Leong Mode of inheritance for gene: TNNI3K was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.45 TNNI3 Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Paediatric or syndromic cardiomyopathy v0.45 TNNI3 Ivone Leong Mode of inheritance for gene: TNNI3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.44 TAZ Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected to an X-link MOI.
Paediatric or syndromic cardiomyopathy v0.44 TAZ Ivone Leong Mode of inheritance for gene: TAZ was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric or syndromic cardiomyopathy v0.43 SLC25A4 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from biallelic to both monoallelic and biallelic to reflect the evidence in the literature.
Paediatric or syndromic cardiomyopathy v0.43 SLC25A4 Ivone Leong Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.42 SLC22A5 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from monoallelic to both monoallelic and biallelic to reflect what is in the literature.
Paediatric or syndromic cardiomyopathy v0.42 SLC22A5 Ivone Leong Mode of inheritance for gene: SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.41 SGCD Ivone Leong Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L to Cardiomyopathy, dilated, 1L, 606685
Paediatric or syndromic cardiomyopathy v0.40 SGCD Ivone Leong Publications for gene: SGCD were set to
Paediatric or syndromic cardiomyopathy v0.39 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.38 PDLIM3 Ivone Leong Mode of inheritance for gene: PDLIM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.37 PPCS Ivone Leong Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, 618189
Paediatric or syndromic cardiomyopathy v0.36 PPCS Ivone Leong Mode of inheritance for gene: PPCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.35 NONO Ivone Leong Mode of inheritance for gene: NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paediatric or syndromic cardiomyopathy v0.34 NKX2-5 Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.33 MYL3 Ivone Leong Mode of inheritance for gene: MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.32 MYBPC3 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed as HCM can be both monoallelic and biallelic.
Paediatric or syndromic cardiomyopathy v0.32 MYBPC3 Ivone Leong Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.31 MLYCD Ivone Leong Publications for gene: MLYCD were set to 27604308
Paediatric or syndromic cardiomyopathy v0.30 LRPPRC Ivone Leong Publications for gene: LRPPRC were set to
Paediatric or syndromic cardiomyopathy v0.29 LMNA Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to reflect the different MOI of relevant cardiac phenotypes.
Paediatric or syndromic cardiomyopathy v0.29 LMNA Ivone Leong Mode of inheritance for gene: LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.28 JPH2 Ivone Leong Mode of inheritance for gene: JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.27 HCN4 Ivone Leong Mode of inheritance for gene: HCN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.26 FHL1 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed to match that in Hypertrophic cardiomyopathy - teen and adult panel (code: 49, version 1.90).
Paediatric or syndromic cardiomyopathy v0.26 FHL1 Ivone Leong Mode of inheritance for gene: FHL1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric or syndromic cardiomyopathy v0.25 FLNC Ivone Leong Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.24 ABCC9 Ivone Leong Publications for gene: ABCC9 were set to
Paediatric or syndromic cardiomyopathy v0.23 AARS2 Ivone Leong Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Paediatric or syndromic cardiomyopathy v0.22 ALPK3 Ivone Leong Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, 618052
Paediatric or syndromic cardiomyopathy v0.21 ALPK3 Ivone Leong Mode of inheritance for gene: ALPK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.20 ALMS1 Ivone Leong Publications for gene: ALMS1 were set to PMID: 15689433
Paediatric or syndromic cardiomyopathy v0.19 AGK Ivone Leong Phenotypes for gene: AGK were changed from to Sengers syndrome, 212350
Paediatric or syndromic cardiomyopathy v0.18 AGK Ivone Leong Mode of inheritance for gene: AGK was changed from to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.17 ACADVL Ivone Leong Publications for gene: ACADVL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308
Paediatric or syndromic cardiomyopathy v0.16 UQCRB Ivone Leong edited their review of gene: UQCRB: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TTR Ivone Leong reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TTC19 Ivone Leong edited their review of gene: TTC19: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TMPO Ivone Leong reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TGFB3 Ivone Leong reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TCAP Ivone Leong reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TACO1 Ivone Leong edited their review of gene: TACO1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 TAB2 Ivone Leong reviewed gene: TAB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SPRED1 Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NEBL Ivone Leong reviewed gene: NEBL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF8 Ivone Leong edited their review of gene: NDUFAF8: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF6 Ivone Leong edited their review of gene: NDUFAF6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA9 Ivone Leong edited their review of gene: NDUFA9: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA6 Ivone Leong edited their review of gene: NDUFA6: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 NDUFA1 Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 LYRM7 Ivone Leong edited their review of gene: LYRM7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 LAMA4 Ivone Leong reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ILK Ivone Leong reviewed gene: ILK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GNS Ivone Leong reviewed gene: GNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLRA1 Ivone Leong reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GBE1 Ivone Leong reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GALNS Ivone Leong reviewed gene: GALNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFDH Ivone Leong reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFB Ivone Leong reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ETFA Ivone Leong reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 EMD Ivone Leong reviewed gene: EMD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DTNA Ivone Leong reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DHCR7 Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CYC1 Ivone Leong edited their review of gene: CYC1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 CTF1 Ivone Leong reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CPS1 Ivone Leong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX6A1 Ivone Leong edited their review of gene: COX6A1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 COA7 Ivone Leong edited their review of gene: COA7: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 BTK Ivone Leong reviewed gene: BTK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BCS1L Ivone Leong edited their review of gene: BCS1L: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 B3GAT3 Ivone Leong reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 APOPT1 Ivone Leong edited their review of gene: APOPT1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED
Paediatric or syndromic cardiomyopathy v0.16 ANKRD1 Ivone Leong reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 UQCC2 Ivone Leong edited their review of gene: UQCC2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 SGSH Ivone Leong reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RASA2 Ivone Leong reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PET100 Ivone Leong edited their review of gene: PET100: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 NDUFA4 Ivone Leong edited their review of gene: NDUFA4: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 NAGLU Ivone Leong reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NAA15 Ivone Leong reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LDB3 Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HGSNAT Ivone Leong reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HFE Ivone Leong reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLA Ivone Leong reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GATA6 Ivone Leong reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FOXRED1 Ivone Leong edited their review of gene: FOXRED1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 FKRP Ivone Leong reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FASTKD2 Ivone Leong edited their review of gene: FASTKD2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 EYA4 Ivone Leong reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CRYAB Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX7B Ivone Leong edited their review of gene: COX7B: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER
Paediatric or syndromic cardiomyopathy v0.16 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 VCL Ivone Leong reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TTN Ivone Leong reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TSFM Ivone Leong reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNI3K Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNI3 Ivone Leong reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TMEM70 Ivone Leong commented on gene: TMEM70: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 TMEM126B Ivone Leong commented on gene: TMEM126B: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 TAZ Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SURF1 Ivone Leong commented on gene: SURF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SOS2 Ivone Leong reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SOS1 Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC25A20 Ivone Leong reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SLC22A5 Ivone Leong reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SHOC2 Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SGCD Ivone Leong reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 SDHD Ivone Leong commented on gene: SDHD: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SDHAF1 Ivone Leong commented on gene: SDHAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SDHA Ivone Leong commented on gene: SDHA: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCO2 Ivone Leong commented on gene: SCO2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCO1 Ivone Leong commented on gene: SCO1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RYR2 Ivone Leong reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RIT1 Ivone Leong reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RBM20 Ivone Leong reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 RAF1 Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PTPN11 Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPP1R13L Ivone Leong reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPP1CB Ivone Leong reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPCS Ivone Leong reviewed gene: PPCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PPA2 Ivone Leong reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PNPLA2 Ivone Leong reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PDLIM3 Ivone Leong reviewed gene: PDLIM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PCCB Ivone Leong reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 PCCA Ivone Leong reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NUBPL Ivone Leong commented on gene: NUBPL: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NRAS Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NONO Ivone Leong reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NKX2-5 Ivone Leong reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NF1 Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NEXN Ivone Leong reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 NDUFV2 Ivone Leong commented on gene: NDUFV2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFV1 Ivone Leong commented on gene: NDUFV1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS8 Ivone Leong commented on gene: NDUFS8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS7 Ivone Leong commented on gene: NDUFS7: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS6 Ivone Leong commented on gene: NDUFS6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS4 Ivone Leong commented on gene: NDUFS4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS3 Ivone Leong commented on gene: NDUFS3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS2 Ivone Leong commented on gene: NDUFS2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFS1 Ivone Leong commented on gene: NDUFS1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB8 Ivone Leong commented on gene: NDUFB8: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB3 Ivone Leong commented on gene: NDUFB3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFB11 Ivone Leong commented on gene: NDUFB11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF5 Ivone Leong commented on gene: NDUFAF5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF4 Ivone Leong commented on gene: NDUFAF4: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF3 Ivone Leong commented on gene: NDUFAF3: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF2 Ivone Leong commented on gene: NDUFAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFAF1 Ivone Leong commented on gene: NDUFAF1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA2 Ivone Leong commented on gene: NDUFA2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA11 Ivone Leong commented on gene: NDUFA11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 NDUFA10 Ivone Leong commented on gene: NDUFA10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 HCN4 Ivone Leong reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYPN Ivone Leong reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYH6 Ivone Leong reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MYBPC3 Ivone Leong reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MUT Ivone Leong reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MRPL44 Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MMACHC Ivone Leong reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MLYCD Ivone Leong reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MIB1 Ivone Leong reviewed gene: MIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MAP2K2 Ivone Leong reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 MAP2K1 Ivone Leong reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LRPPRC Ivone Leong commented on gene: LRPPRC: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 KRAS Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 JPH2 Ivone Leong reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDUA Ivone Leong reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDS Ivone Leong reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 IDH2 Ivone Leong reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HADHB Ivone Leong reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 HADHA Ivone Leong reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GUSB Ivone Leong reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GLB1 Ivone Leong reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 GAA Ivone Leong reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FKTN Ivone Leong reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 FAH Ivone Leong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 EPG5 Ivone Leong reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DOLK Ivone Leong reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DNAJC19 Ivone Leong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DMD Ivone Leong reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 CPT2 Ivone Leong reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 COX6B1 Ivone Leong commented on gene: COX6B1: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX20 Ivone Leong commented on gene: COX20: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX15 Ivone Leong commented on gene: COX15: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX14 Ivone Leong commented on gene: COX14: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COX10 Ivone Leong commented on gene: COX10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COA6 Ivone Leong commented on gene: COA6: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 COA5 Ivone Leong commented on gene: COA5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BRAF Ivone Leong reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 BAG3 Ivone Leong reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ATPAF2 Ivone Leong commented on gene: ATPAF2: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ATP5D Ivone Leong commented on gene: ATP5D: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ARSB Ivone Leong reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ALPK3 Ivone Leong reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ALMS1 Ivone Leong reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AGL Ivone Leong reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AGK Ivone Leong reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACTA1 Ivone Leong reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACADVL Ivone Leong reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 ACAD9 Ivone Leong commented on gene: ACAD9: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.16 ABCC9 Ivone Leong reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.16 AARS2 Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 UQCRB Ivone Leong Source Expert Review Red was added to UQCRB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TTR Ivone Leong Source Expert Review Red was added to TTR.
Source NHS GMS was added to TTR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TTC19 Ivone Leong Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TMPO Ivone Leong Source NHS GMS was added to TMPO.
Paediatric or syndromic cardiomyopathy v0.15 TGFB3 Ivone Leong Source NHS GMS was added to TGFB3.
Paediatric or syndromic cardiomyopathy v0.15 TCAP Ivone Leong Source Expert Review Red was added to TCAP.
Source NHS GMS was added to TCAP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TACO1 Ivone Leong Source Expert Review Red was added to TACO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 TAB2 Ivone Leong Source Expert Review Red was added to TAB2.
Source NHS GMS was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 SPRED1 Ivone Leong Source Expert Review Red was added to SPRED1.
Source NHS GMS was added to SPRED1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NEBL Ivone Leong Source NHS GMS was added to NEBL.
Paediatric or syndromic cardiomyopathy v0.15 NDUFAF8 Ivone Leong Source Expert Review Red was added to NDUFAF8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFAF6 Ivone Leong Source Expert Review Red was added to NDUFAF6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA9 Ivone Leong Source Expert Review Red was added to NDUFA9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA6 Ivone Leong Source Expert Review Red was added to NDUFA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA1 Ivone Leong Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 LYRM7 Ivone Leong Source Expert Review Red was added to LYRM7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 LAMA4 Ivone Leong Source NHS GMS was added to LAMA4.
Paediatric or syndromic cardiomyopathy v0.15 ILK Ivone Leong Source NHS GMS was added to ILK.
Paediatric or syndromic cardiomyopathy v0.15 GNS Ivone Leong Source Expert Review Red was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GLRA1 Ivone Leong Source Expert Review Red was added to GLRA1.
Source NHS GMS was added to GLRA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GBE1 Ivone Leong Source Expert Review Red was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 GALNS Ivone Leong Source Expert Review Red was added to GALNS.
Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFDH Ivone Leong Source Expert Review Red was added to ETFDH.
Source NHS GMS was added to ETFDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFB Ivone Leong Source Expert Review Red was added to ETFB.
Source NHS GMS was added to ETFB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ETFA Ivone Leong Source Expert Review Red was added to ETFA.
Source NHS GMS was added to ETFA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 EMD Ivone Leong Source NHS GMS was added to EMD.
Paediatric or syndromic cardiomyopathy v0.15 DTNA Ivone Leong Source NHS GMS was added to DTNA.
Paediatric or syndromic cardiomyopathy v0.15 DHCR7 Ivone Leong Source Expert Review Red was added to DHCR7.
Source NHS GMS was added to DHCR7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 CYC1 Ivone Leong Source Expert Review Red was added to CYC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 CTF1 Ivone Leong Source NHS GMS was added to CTF1.
Paediatric or syndromic cardiomyopathy v0.15 CPS1 Ivone Leong Source Expert Review Red was added to CPS1.
Source NHS GMS was added to CPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 COX6A1 Ivone Leong Source Expert Review Red was added to COX6A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 COA7 Ivone Leong Source Expert Review Red was added to COA7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 BTK Ivone Leong gene: BTK was added
gene: BTK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: BTK was set to
Paediatric or syndromic cardiomyopathy v0.15 BCS1L Ivone Leong Source Expert Review Red was added to BCS1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 B3GAT3 Ivone Leong Source Expert Review Red was added to B3GAT3.
Source NHS GMS was added to B3GAT3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 APOPT1 Ivone Leong Source Expert Review Red was added to APOPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 ANKRD1 Ivone Leong Source Expert Review Red was added to ANKRD1.
Source NHS GMS was added to ANKRD1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.15 UQCC2 Ivone Leong Source Expert Review Amber was added to UQCC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 SGSH Ivone Leong Source NHS GMS was added to SGSH.
Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 RASA2 Ivone Leong Source NHS GMS was added to RASA2.
Source Expert Review Amber was added to RASA2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 PET100 Ivone Leong Source Expert Review Amber was added to PET100.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NDUFA4 Ivone Leong Source Expert Review Amber was added to NDUFA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NAGLU Ivone Leong Source NHS GMS was added to NAGLU.
Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 NAA15 Ivone Leong gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to
Paediatric or syndromic cardiomyopathy v0.15 LDB3 Ivone Leong Source NHS GMS was added to LDB3.
Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Source Expert Review Amber was added to HGSNAT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 HFE Ivone Leong Source NHS GMS was added to HFE.
Source Expert Review Amber was added to HFE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 GLA Ivone Leong Source NHS GMS was added to GLA.
Source Expert Review Amber was added to GLA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to
Paediatric or syndromic cardiomyopathy v0.15 FOXRED1 Ivone Leong Source Expert Review Amber was added to FOXRED1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 FKRP Ivone Leong gene: FKRP was added
gene: FKRP was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to
Paediatric or syndromic cardiomyopathy v0.15 FASTKD2 Ivone Leong Source Expert Review Amber was added to FASTKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 EYA4 Ivone Leong Source NHS GMS was added to EYA4.
Source Expert Review Amber was added to EYA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 CSRP3 Ivone Leong Source NHS GMS was added to CSRP3.
Source Expert Review Amber was added to CSRP3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 CRYAB Ivone Leong Source NHS GMS was added to CRYAB.
Paediatric or syndromic cardiomyopathy v0.15 COX7B Ivone Leong Source Expert Review Amber was added to COX7B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.15 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to
Paediatric or syndromic cardiomyopathy v0.15 VCL Ivone Leong Source NHS GMS was added to VCL.
Paediatric or syndromic cardiomyopathy v0.15 TTN Ivone Leong Source NHS GMS was added to TTN.
Paediatric or syndromic cardiomyopathy v0.15 TSFM Ivone Leong Source NHS GMS was added to TSFM.
Paediatric or syndromic cardiomyopathy v0.15 TPM1 Ivone Leong Source NHS GMS was added to TPM1.
Paediatric or syndromic cardiomyopathy v0.15 TNNT2 Ivone Leong Source NHS GMS was added to TNNT2.
Paediatric or syndromic cardiomyopathy v0.15 TNNI3K Ivone Leong gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TNNI3K was set to
Paediatric or syndromic cardiomyopathy v0.15 TNNI3 Ivone Leong Source NHS GMS was added to TNNI3.
Paediatric or syndromic cardiomyopathy v0.15 TNNC1 Ivone Leong Source NHS GMS was added to TNNC1.
Paediatric or syndromic cardiomyopathy v0.15 TMEM43 Ivone Leong Source NHS GMS was added to TMEM43.
Paediatric or syndromic cardiomyopathy v0.15 TAZ Ivone Leong Source NHS GMS was added to TAZ.
Paediatric or syndromic cardiomyopathy v0.15 SOS2 Ivone Leong Source NHS GMS was added to SOS2.
Paediatric or syndromic cardiomyopathy v0.15 SOS1 Ivone Leong Source NHS GMS was added to SOS1.
Paediatric or syndromic cardiomyopathy v0.15 SLC25A4 Ivone Leong Source NHS GMS was added to SLC25A4.
Paediatric or syndromic cardiomyopathy v0.15 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Paediatric or syndromic cardiomyopathy v0.15 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Paediatric or syndromic cardiomyopathy v0.15 SHOC2 Ivone Leong Source NHS GMS was added to SHOC2.
Paediatric or syndromic cardiomyopathy v0.15 SGCD Ivone Leong Source NHS GMS was added to SGCD.
Paediatric or syndromic cardiomyopathy v0.15 SCN5A Ivone Leong Source NHS GMS was added to SCN5A.
Paediatric or syndromic cardiomyopathy v0.15 RYR2 Ivone Leong Source NHS GMS was added to RYR2.
Paediatric or syndromic cardiomyopathy v0.15 RIT1 Ivone Leong Source NHS GMS was added to RIT1.
Paediatric or syndromic cardiomyopathy v0.15 RBM20 Ivone Leong Source NHS GMS was added to RBM20.
Paediatric or syndromic cardiomyopathy v0.15 RAF1 Ivone Leong Source NHS GMS was added to RAF1.
Paediatric or syndromic cardiomyopathy v0.15 PTPN11 Ivone Leong Source NHS GMS was added to PTPN11.
Paediatric or syndromic cardiomyopathy v0.15 PRKAG2 Ivone Leong Source NHS GMS was added to PRKAG2.
Paediatric or syndromic cardiomyopathy v0.15 PPP1R13L Ivone Leong Source NHS GMS was added to PPP1R13L.
Paediatric or syndromic cardiomyopathy v0.15 PPP1CB Ivone Leong Source NHS GMS was added to PPP1CB.
Paediatric or syndromic cardiomyopathy v0.15 PPCS Ivone Leong gene: PPCS was added
gene: PPCS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPCS was set to
Paediatric or syndromic cardiomyopathy v0.15 PPA2 Ivone Leong Source NHS GMS was added to PPA2.
Paediatric or syndromic cardiomyopathy v0.15 PNPLA2 Ivone Leong Source NHS GMS was added to PNPLA2.
Paediatric or syndromic cardiomyopathy v0.15 PLN Ivone Leong Source NHS GMS was added to PLN.
Paediatric or syndromic cardiomyopathy v0.15 PKP2 Ivone Leong Source NHS GMS was added to PKP2.
Paediatric or syndromic cardiomyopathy v0.15 PDLIM3 Ivone Leong Source Expert Review Green was added to PDLIM3.
Source NHS GMS was added to PDLIM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 PCCB Ivone Leong Source NHS GMS was added to PCCB.
Paediatric or syndromic cardiomyopathy v0.15 PCCA Ivone Leong Source NHS GMS was added to PCCA.
Paediatric or syndromic cardiomyopathy v0.15 NRAS Ivone Leong Source NHS GMS was added to NRAS.
Paediatric or syndromic cardiomyopathy v0.15 NONO Ivone Leong gene: NONO was added
gene: NONO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NONO was set to
Paediatric or syndromic cardiomyopathy v0.15 NKX2-5 Ivone Leong Source Expert Review Green was added to NKX2-5.
Source NHS GMS was added to NKX2-5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 NF1 Ivone Leong Source NHS GMS was added to NF1.
Paediatric or syndromic cardiomyopathy v0.15 NEXN Ivone Leong Source NHS GMS was added to NEXN.
Paediatric or syndromic cardiomyopathy v0.15 HCN4 Ivone Leong gene: HCN4 was added
gene: HCN4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCN4 was set to
Paediatric or syndromic cardiomyopathy v0.15 MYPN Ivone Leong Source NHS GMS was added to MYPN.
Paediatric or syndromic cardiomyopathy v0.15 MYL3 Ivone Leong Source NHS GMS was added to MYL3.
Paediatric or syndromic cardiomyopathy v0.15 MYL2 Ivone Leong Source NHS GMS was added to MYL2.
Paediatric or syndromic cardiomyopathy v0.15 MYH7 Ivone Leong Source NHS GMS was added to MYH7.
Paediatric or syndromic cardiomyopathy v0.15 MYH6 Ivone Leong Source NHS GMS was added to MYH6.
Paediatric or syndromic cardiomyopathy v0.15 MYBPC3 Ivone Leong Source NHS GMS was added to MYBPC3.
Paediatric or syndromic cardiomyopathy v0.15 MUT Ivone Leong Source NHS GMS was added to MUT.
Paediatric or syndromic cardiomyopathy v0.15 MRPL44 Ivone Leong Source NHS GMS was added to MRPL44.
Paediatric or syndromic cardiomyopathy v0.15 MMACHC Ivone Leong Source NHS GMS was added to MMACHC.
Paediatric or syndromic cardiomyopathy v0.15 MLYCD Ivone Leong Source NHS GMS was added to MLYCD.
Paediatric or syndromic cardiomyopathy v0.15 MIB1 Ivone Leong Source NHS GMS was added to MIB1.
Paediatric or syndromic cardiomyopathy v0.15 MAP2K2 Ivone Leong Source NHS GMS was added to MAP2K2.
Paediatric or syndromic cardiomyopathy v0.15 MAP2K1 Ivone Leong Source NHS GMS was added to MAP2K1.
Paediatric or syndromic cardiomyopathy v0.15 LZTR1 Ivone Leong Source NHS GMS was added to LZTR1.
Paediatric or syndromic cardiomyopathy v0.15 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Paediatric or syndromic cardiomyopathy v0.15 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Paediatric or syndromic cardiomyopathy v0.15 KRAS Ivone Leong Source NHS GMS was added to KRAS.
Paediatric or syndromic cardiomyopathy v0.15 JUP Ivone Leong Source NHS GMS was added to JUP.
Paediatric or syndromic cardiomyopathy v0.15 JPH2 Ivone Leong gene: JPH2 was added
gene: JPH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Paediatric or syndromic cardiomyopathy v0.15 IDUA Ivone Leong Source NHS GMS was added to IDUA.
Paediatric or syndromic cardiomyopathy v0.15 IDS Ivone Leong Source NHS GMS was added to IDS.
Paediatric or syndromic cardiomyopathy v0.15 IDH2 Ivone Leong Source NHS GMS was added to IDH2.
Paediatric or syndromic cardiomyopathy v0.15 HRAS Ivone Leong Source NHS GMS was added to HRAS.
Paediatric or syndromic cardiomyopathy v0.15 HADHB Ivone Leong Source NHS GMS was added to HADHB.
Paediatric or syndromic cardiomyopathy v0.15 HADHA Ivone Leong Source NHS GMS was added to HADHA.
Paediatric or syndromic cardiomyopathy v0.15 GUSB Ivone Leong Source NHS GMS was added to GUSB.
Paediatric or syndromic cardiomyopathy v0.15 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Paediatric or syndromic cardiomyopathy v0.15 GAA Ivone Leong Source NHS GMS was added to GAA.
Paediatric or syndromic cardiomyopathy v0.15 FLNC Ivone Leong gene: FLNC was added
gene: FLNC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLNC was set to
Paediatric or syndromic cardiomyopathy v0.15 FKTN Ivone Leong Source NHS GMS was added to FKTN.
Paediatric or syndromic cardiomyopathy v0.15 FHL1 Ivone Leong Source NHS GMS was added to FHL1.
Paediatric or syndromic cardiomyopathy v0.15 FAH Ivone Leong Source NHS GMS was added to FAH.
Paediatric or syndromic cardiomyopathy v0.15 EPG5 Ivone Leong Source NHS GMS was added to EPG5.
Paediatric or syndromic cardiomyopathy v0.15 DSP Ivone Leong Source NHS GMS was added to DSP.
Paediatric or syndromic cardiomyopathy v0.15 DSG2 Ivone Leong Source NHS GMS was added to DSG2.
Paediatric or syndromic cardiomyopathy v0.15 DSC2 Ivone Leong Source NHS GMS was added to DSC2.
Paediatric or syndromic cardiomyopathy v0.15 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Paediatric or syndromic cardiomyopathy v0.15 DNAJC19 Ivone Leong Source NHS GMS was added to DNAJC19.
Paediatric or syndromic cardiomyopathy v0.15 DMD Ivone Leong Source NHS GMS was added to DMD.
Paediatric or syndromic cardiomyopathy v0.15 DES Ivone Leong Source NHS GMS was added to DES.
Paediatric or syndromic cardiomyopathy v0.15 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Paediatric or syndromic cardiomyopathy v0.15 COA5 Ivone Leong Source Expert Review Green was added to COA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 CBL Ivone Leong Source NHS GMS was added to CBL.
Paediatric or syndromic cardiomyopathy v0.15 BRAF Ivone Leong Source NHS GMS was added to BRAF.
Paediatric or syndromic cardiomyopathy v0.15 BAG3 Ivone Leong Source NHS GMS was added to BAG3.
Paediatric or syndromic cardiomyopathy v0.15 ARSB Ivone Leong Source NHS GMS was added to ARSB.
Paediatric or syndromic cardiomyopathy v0.15 ALPK3 Ivone Leong gene: ALPK3 was added
gene: ALPK3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALPK3 was set to
Paediatric or syndromic cardiomyopathy v0.15 ALMS1 Ivone Leong Source Expert Review Green was added to ALMS1.
Source NHS GMS was added to ALMS1.
Rating Changed from No List (delete) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.15 AGL Ivone Leong Source NHS GMS was added to AGL.
Paediatric or syndromic cardiomyopathy v0.15 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AGK was set to
Paediatric or syndromic cardiomyopathy v0.15 ACTN2 Ivone Leong Source NHS GMS was added to ACTN2.
Paediatric or syndromic cardiomyopathy v0.15 ACTC1 Ivone Leong Source NHS GMS was added to ACTC1.
Paediatric or syndromic cardiomyopathy v0.15 ACTA1 Ivone Leong Source NHS GMS was added to ACTA1.
Paediatric or syndromic cardiomyopathy v0.15 ACADVL Ivone Leong Source NHS GMS was added to ACADVL.
Paediatric or syndromic cardiomyopathy v0.15 ABCC9 Ivone Leong Source NHS GMS was added to ABCC9.
Paediatric or syndromic cardiomyopathy v0.15 AARS2 Ivone Leong Source NHS GMS was added to AARS2.
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Classified Region: ISCA-37431-Loss as Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Added comment: Comment on list classification: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel.
Paediatric or syndromic cardiomyopathy v0.14 ISCA-37431-Loss Ivone Leong Region: isca-37431-loss has been classified as Red List (Low Evidence).
Paediatric or syndromic cardiomyopathy v0.13 TACO1 Matthew Edwards reviewed gene: TACO1: Rating: RED; Mode of pathogenicity: None; Publications: 27319982, 19503089; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: None
Paediatric or syndromic cardiomyopathy v0.13 TAB2 Matthew Edwards reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20493459; Phenotypes: OMIM 614980 Congenital heart defects, nonsyndromic, 2; Mode of inheritance: None
Paediatric or syndromic cardiomyopathy v0.13 SPRED1 Matthew Edwards reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.13 SGCD Matthew Edwards reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: None; Publications: 18779423, 23900355, 10735275; Phenotypes: OMIM 606685 Cardiomyopathy, dilated, 1L, 601287 Muscular dystrophy, limb-girdle, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 SDHAF1 Matthew Edwards changed review comment from: None of the literature describes cardian involvement, and a cardiomyopathy is not going to be presenting feature (key symptom is leukoencephalopathy). Not appropriate for this panel.; to: None of the literature describes cardiac involvement, and a cardiomyopathy (even if present) is not going to be presenting feature (key symptom is leukoencephalopathy). Not appropriate for this panel.
Paediatric or syndromic cardiomyopathy v0.13 SDHAF1 Matthew Edwards reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: None; Publications: 22995659, 26642834, 19465911; Phenotypes: OMIM 252011 Mitochondrial complex II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 PPP1CB Matthew Edwards changed review comment from: Several literature reports with good evidence for causation. Noonan-like syndrome has congenitall heart abnormalities (restricted to structural abnormalities, no reports of HCM), so gene isappropriate for this panel on bais of congential cardiac abnormalities.; to: Several literature reports with good evidence for causation. Noonan-like syndrome has congenitall heart abnormalities (restricted to structural abnormalities, no reports of HCM), so gene is appropriate for this panel on basis of congential cardiac abnormalities if panel is meant to encompass Rasopathies
Paediatric or syndromic cardiomyopathy v0.13 PPP1CB Matthew Edwards reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27264673, 28211982, 27681385; Phenotypes: OMIM 617506 Noonan syndrome-like disorder with loose anagen hair 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.13 MLYCD James Eden changed review comment from: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting hypoglycemia (Genetics Home Reference).; to: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting and hypoglycemia (Genetics Home Reference).
Paediatric or syndromic cardiomyopathy v0.13 MLYCD James Eden changed review comment from: Cardiomyopathy is one of main presenting features of this condition.; to: Cardiomyopathy is one of the main presenting features of this condition along with development delay, hypotonia, seizures, diarrhoea, vomiting hypoglycemia (Genetics Home Reference).
Paediatric or syndromic cardiomyopathy v0.13 MLYCD James Eden reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 7609455, 9177981, 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 LRPPRC James Eden reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 12529507, 26510951, 22045337, 24399447; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 ISCA-37431-Loss James Eden reviewed Region: ISCA-37431-Loss: Rating: AMBER; Mode of pathogenicity: None; Publications: 14729829, 12180143; Phenotypes: Chromosome 17q11.2 deletion syndrome 1.4Mb, 613675; Mode of inheritance: Other
Paediatric or syndromic cardiomyopathy v0.13 IDUA James Eden reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9686810; Phenotypes: Mucopolysaccharidosis (MPS) type I, 607014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 HGSNAT James Eden changed review comment from: Gene is associated with mucopolysaccharidosis MPS type III-C (Sanfilippo C). Cardiomyopathy has been described on one occasion as a presenting feature (PMID 21048366).; to: Gene is associated with mucopolysaccharidosis MPS type III-C (Sanfilippo C). Cardiomyopathy has been described on one occasion as a presenting feature but in a 39 year old (PMID 21048366).
Paediatric or syndromic cardiomyopathy v0.13 HGSNAT James Eden reviewed gene: HGSNAT: Rating: RED; Mode of pathogenicity: None; Publications: 21048366; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930, Retinitis pigmentosa 73, 616544; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 ACADVL James Eden reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285112, 9973285; Phenotypes: VLCAD deficiency 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v0.13 ABCC9 James Eden reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 15034580; Phenotypes: Atrial fibrillation, familial, 12 614050, Cardiomyopathy, dilated, 1O 608569, Hypertrichotic osteochondrodysplasia 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.13 ABCC9 Matthew Edwards reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM#239850:Cantu Syndrome; Mode of inheritance: None; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v0.13 ALMS1 Rebecca Whittington gene: ALMS1 was added
gene: ALMS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to PMID: 15689433
Phenotypes for gene: ALMS1 were set to OMIM 203800
Penetrance for gene: ALMS1 were set to Complete
Review for gene: ALMS1 was set to GREEN
Added comment: Presentation with congestive cardiac failure within the first 3 months of life is common patients with Alstrom Syndrome.
Sources: Expert Review
Paediatric or syndromic cardiomyopathy v0.13 ISCA-37431-Loss Ivone Leong Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cardiomyopathies - including childhood onset. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NF1 MICRODELETION SYNDROME; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Paediatric or syndromic cardiomyopathy v0.12 Ivone Leong List of related panels changed from Paediatric or syndromic cardiomyopathy to Paediatric or syndromic cardiomyopathy; R135
Paediatric or syndromic cardiomyopathy v0.6 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Paediatric or syndromic cardiomyopathy v0.6 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Paediatric or syndromic cardiomyopathy v0.6 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Paediatric or syndromic cardiomyopathy v0.6 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA6 were set to 25959673; 25339201; 24549041; 22277967
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Paediatric or syndromic cardiomyopathy v0.6 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
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
Paediatric or syndromic cardiomyopathy v0.6 UQCRB Ivone Leong gene: UQCRB was added
gene: UQCRB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to 28604960; 25446085; 12709789
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Paediatric or syndromic cardiomyopathy v0.6 UQCC2 Ivone Leong gene: UQCC2 was added
gene: UQCC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 28804536; 24385928
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Paediatric or syndromic cardiomyopathy v0.6 TTC19 Ivone Leong gene: TTC19 was added
gene: TTC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Paediatric or syndromic cardiomyopathy v0.6 LYRM7 Ivone Leong gene: LYRM7 was added
gene: LYRM7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Paediatric or syndromic cardiomyopathy v0.6 CYC1 Ivone Leong gene: CYC1 was added
gene: CYC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Paediatric or syndromic cardiomyopathy v0.6 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Paediatric or syndromic cardiomyopathy v0.6 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 26008905; 24367056
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Paediatric or syndromic cardiomyopathy v0.6 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 22995659; 26642834; 19465911
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Paediatric or syndromic cardiomyopathy v0.6 TMEM126B Ivone Leong gene: TMEM126B was added
gene: TMEM126B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374773; 27374774
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Paediatric or syndromic cardiomyopathy v0.6 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Paediatric or syndromic cardiomyopathy v0.6 NDUFV2 Ivone Leong gene: NDUFV2 was added
gene: NDUFV2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Paediatric or syndromic cardiomyopathy v0.6 NDUFV1 Ivone Leong gene: NDUFV1 was added
gene: NDUFV1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Paediatric or syndromic cardiomyopathy v0.6 NDUFS8 Ivone Leong gene: NDUFS8 was added
gene: NDUFS8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Paediatric or syndromic cardiomyopathy v0.6 NDUFS7 Ivone Leong gene: NDUFS7 was added
gene: NDUFS7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Paediatric or syndromic cardiomyopathy v0.6 NDUFS6 Ivone Leong gene: NDUFS6 was added
gene: NDUFS6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Paediatric or syndromic cardiomyopathy v0.6 NDUFS4 Ivone Leong gene: NDUFS4 was added
gene: NDUFS4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Paediatric or syndromic cardiomyopathy v0.6 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Paediatric or syndromic cardiomyopathy v0.6 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Paediatric or syndromic cardiomyopathy v0.6 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Paediatric or syndromic cardiomyopathy v0.6 NDUFB8 Ivone Leong gene: NDUFB8 was added
gene: NDUFB8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571; 27290639
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Paediatric or syndromic cardiomyopathy v0.6 NDUFB3 Ivone Leong gene: NDUFB3 was added
gene: NDUFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Paediatric or syndromic cardiomyopathy v0.6 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF8 Ivone Leong gene: NDUFAF8 was added
gene: NDUFAF8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF6 Ivone Leong gene: NDUFAF6 was added
gene: NDUFAF6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF5 Ivone Leong gene: NDUFAF5 was added
gene: NDUFAF5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF4 Ivone Leong gene: NDUFAF4 was added
gene: NDUFAF4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF3 Ivone Leong gene: NDUFAF3 was added
gene: NDUFAF3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF2 Ivone Leong gene: NDUFAF2 was added
gene: NDUFAF2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Paediatric or syndromic cardiomyopathy v0.6 NDUFAF1 Ivone Leong gene: NDUFAF1 was added
gene: NDUFAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Paediatric or syndromic cardiomyopathy v0.6 NDUFA9 Ivone Leong gene: NDUFA9 was added
gene: NDUFA9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105; 28671271
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Paediatric or syndromic cardiomyopathy v0.6 NDUFA6 Ivone Leong gene: NDUFA6 was added
gene: NDUFA6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Paediatric or syndromic cardiomyopathy v0.6 NDUFA2 Ivone Leong gene: NDUFA2 was added
gene: NDUFA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Paediatric or syndromic cardiomyopathy v0.6 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Paediatric or syndromic cardiomyopathy v0.6 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Paediatric or syndromic cardiomyopathy v0.6 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NDUFA1 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: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Paediatric or syndromic cardiomyopathy v0.6 FOXRED1 Ivone Leong gene: FOXRED1 was added
gene: FOXRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Paediatric or syndromic cardiomyopathy v0.6 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Paediatric or syndromic cardiomyopathy v0.4 SPRED1 Ivone Leong gene: SPRED1 was added
gene: SPRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Paediatric or syndromic cardiomyopathy v0.4 SOS2 Ivone Leong Source Expert List was added to SOS2.
Mode of pathogenicity for gene SOS2 was changed from to Other - please provide details in the comments
Added phenotypes Noonan syndrome 9 616559 for gene: SOS2
Publications for gene SOS2 were changed from 25795793; 26173643 to 26173643; 25795793
Paediatric or syndromic cardiomyopathy v0.4 SOS1 Ivone Leong Source Expert List was added to SOS1.
Mode of pathogenicity for gene SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 4 610733 for gene: SOS1
Publications for gene SOS1 were changed from 17586837; 17143285; PMID: 19438935; 17143282 to 19438935; 17143285; 17143282; 17586837
Paediatric or syndromic cardiomyopathy v0.4 SHOC2 Ivone Leong Source Expert List was added to SHOC2.
Mode of pathogenicity for gene SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2
Publications for gene SHOC2 were changed from 22528146; 23918763; PMID: 19684605 to 19684605; 22528146; 23918763
Paediatric or syndromic cardiomyopathy v0.4 RIT1 Ivone Leong Source Expert List was added to RIT1.
Mode of pathogenicity for gene RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 8 615355 for gene: RIT1
Publications for gene RIT1 were changed from 24939608; PMID: 23791108; 25124994 to 25124994; 23791108; 24939608
Paediatric or syndromic cardiomyopathy v0.4 RAF1 Ivone Leong Source Expert List was added to RAF1.
Mode of pathogenicity for gene RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 5 611553; LEOPARD syndrome 2 611554 for gene: RAF1
Publications for gene RAF1 were changed from PMID: 17603483; 17603482 to 17603483; 17603482
Paediatric or syndromic cardiomyopathy v0.4 PTPN11 Ivone Leong Source Expert List was added to PTPN11.
Mode of pathogenicity for gene PTPN11 was changed from to Other - please provide details in the comments
Added phenotypes LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11
Publications for gene PTPN11 were changed from 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 to 17603483; 15384080; 15240615; 16263833; 18678287; 12529711; 17497712; 12634870; 11704759
Paediatric or syndromic cardiomyopathy v0.4 PPP1CB Ivone Leong Source Expert List was added to PPP1CB.
Added phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 28211982; 27264673; 27681385
Paediatric or syndromic cardiomyopathy v0.4 NRAS Ivone Leong Source Expert List was added to NRAS.
Mode of pathogenicity for gene NRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes CFC Syndrome; Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224 for gene: NRAS
Publications for gene NRAS were changed from 19775298; PMID: 19966803 to 19775298; 19966803
Paediatric or syndromic cardiomyopathy v0.4 NF1 Ivone Leong Source Expert List was added to NF1.
Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Publications for gene NF1 were changed from 12707950; 19845691; PMID: 16380919 to 12707950; 16380919; 19845691
Paediatric or syndromic cardiomyopathy v0.4 MAP2K2 Ivone Leong Source Expert List was added to MAP2K2.
Mode of pathogenicity for gene MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2
Publications for gene MAP2K2 were changed from PMID: 21396583; 23379592 to 23379592; 21396583
Paediatric or syndromic cardiomyopathy v0.4 MAP2K1 Ivone Leong Source Expert List was added to MAP2K1.
Mode of pathogenicity for gene MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes CFC syndrome; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: MAP2K1
Publications for gene MAP2K1 were changed from 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association).
Paediatric or syndromic cardiomyopathy v0.4 LZTR1 Ivone Leong gene: LZTR1 was added
gene: LZTR1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 29469822; 25795793
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Paediatric or syndromic cardiomyopathy v0.4 KRAS Ivone Leong Source Expert List was added to KRAS.
Mode of pathogenicity for gene KRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942 for gene: KRAS
Paediatric or syndromic cardiomyopathy v0.4 HRAS Ivone Leong Source Expert List was added to HRAS.
Mode of pathogenicity for gene HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Costello syndrome for gene: HRAS
Publications for gene HRAS were changed from PMID: 16170316; 21396583; 16969868; 16443854 to 16170316; 16443854; 21396583; 16969868
Paediatric or syndromic cardiomyopathy v0.4 CBL Ivone Leong Source Expert List was added to CBL.
Mode of pathogenicity for gene CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL
Publications for gene CBL were changed from 20543203; 19571318; PMID: 20619386 to 20543203; 19571318; 20619386
Paediatric or syndromic cardiomyopathy v0.4 BRAF Ivone Leong Source Expert List was added to BRAF.
Mode of pathogenicity for gene BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707 for gene: BRAF
Publications for gene BRAF were changed from 21396583; PMID: 19206169 to 21396583; 19206169
Paediatric or syndromic cardiomyopathy v0.3 Ivone Leong Panel status changed from internal to public
Paediatric or syndromic cardiomyopathy v0.1 TMPO Ivone Leong gene: TMPO was added
gene: TMPO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 TGFB3 Ivone Leong gene: TGFB3 was added
gene: TGFB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1
Paediatric or syndromic cardiomyopathy v0.1 RASA2 Ivone Leong gene: RASA2 was added
gene: RASA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to PMID: 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Paediatric or syndromic cardiomyopathy v0.1 PDLIM3 Ivone Leong gene: PDLIM3 was added
gene: PDLIM3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: PDLIM3 was set to Unknown
Paediatric or syndromic cardiomyopathy v0.1 NKX2-5 Ivone Leong gene: NKX2-5 was added
gene: NKX2-5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH
Mode of inheritance for gene: NKX2-5 was set to Unknown
Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Paediatric or syndromic cardiomyopathy v0.1 NEBL Ivone Leong gene: NEBL was added
gene: NEBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v0.1 MIB1 Ivone Leong gene: MIB1 was added
gene: MIB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7
Paediatric or syndromic cardiomyopathy v0.1 LAMA4 Ivone Leong gene: LAMA4 was added
gene: LAMA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v0.1 ILK Ivone Leong gene: ILK was added
gene: ILK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: ILK was set to Unknown
Paediatric or syndromic cardiomyopathy v0.1 EMD Ivone Leong gene: EMD was added
gene: EMD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: EMD 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: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Paediatric or syndromic cardiomyopathy v0.1 DTNA Ivone Leong gene: DTNA was added
gene: DTNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,
Paediatric or syndromic cardiomyopathy v0.1 CTF1 Ivone Leong gene: CTF1 was added
gene: CTF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.1 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA5 were set to 27604308
Phenotypes for gene: COA5 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Paediatric or syndromic cardiomyopathy v0.1 TTR Ivone Leong gene: TTR was added
gene: TTR was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 TAB2 Ivone Leong gene: TAB2 was added
gene: TAB2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber
Mode of inheritance for gene: TAB2 was set to
Paediatric or syndromic cardiomyopathy v0.1 MYPN Ivone Leong gene: MYPN was added
gene: MYPN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Cardiomypathy, familial hypertrophic, 22,; Cardiomyopathy, dilated, 1KK
Paediatric or syndromic cardiomyopathy v0.1 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Cataracts; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities; Intellectual disability
Paediatric or syndromic cardiomyopathy v0.1 CRYAB Ivone Leong gene: CRYAB was added
gene: CRYAB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869; Cardiomyopathy, dilated, 1II,
Paediatric or syndromic cardiomyopathy v0.1 ANKRD1 Ivone Leong gene: ANKRD1 was added
gene: ANKRD1 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber,South West GLH
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 ACTA1 Ivone Leong gene: ACTA1 was added
gene: ACTA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Phenotypes for gene: ACTA1 were set to Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; CMD with rigid spine; Myopathy, congenital, with fiber-type disproportion 1 255310
Paediatric or syndromic cardiomyopathy v0.1 VCL Ivone Leong gene: VCL was added
gene: VCL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W
Paediatric or syndromic cardiomyopathy v0.1 TTN Ivone Leong gene: TTN was added
gene: TTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G
Paediatric or syndromic cardiomyopathy v0.1 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3 610505
Paediatric or syndromic cardiomyopathy v0.1 TPM1 Ivone Leong gene: TPM1 was added
gene: TPM1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Cardiomyopathy, familial hypertrophic, 3; Cardiomyopathy, dilated, 1Y; Left ventricular noncompaction 9,
Paediatric or syndromic cardiomyopathy v0.1 TNNT2 Ivone Leong gene: TNNT2 was added
gene: TNNT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,
Paediatric or syndromic cardiomyopathy v0.1 TNNI3 Ivone Leong gene: TNNI3 was added
gene: TNNI3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNI3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNI3 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 2A,
Paediatric or syndromic cardiomyopathy v0.1 TNNC1 Ivone Leong gene: TNNC1 was added
gene: TNNC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z; Cardiomyopathy, familial hypertrophic, 13,
Paediatric or syndromic cardiomyopathy v0.1 TMEM43 Ivone Leong gene: TMEM43 was added
gene: TMEM43 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302
Paediatric or syndromic cardiomyopathy v0.1 TCAP Ivone Leong gene: TCAP was added
gene: TCAP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 21530252; 23479141
Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N
Paediatric or syndromic cardiomyopathy v0.1 TAZ Ivone Leong gene: TAZ was added
gene: TAZ was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
Mode of inheritance for gene: TAZ was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TAZ were set to 27604308
Phenotypes for gene: TAZ were set to Disorders of mitochondrial lipid metabolism; Dilated Cardiomyopathy, X-Linked; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; Barth syndrome, 302060; Left Ventricular Noncompaction Cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
Paediatric or syndromic cardiomyopathy v0.1 SOS2 Ivone Leong gene: SOS2 was added
gene: SOS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9
Paediatric or syndromic cardiomyopathy v0.1 SOS1 Ivone Leong gene: SOS1 was added
gene: SOS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 17586837; 17143285; PMID: 19438935; 17143282
Phenotypes for gene: SOS1 were set to Noonan syndrome 4; syndromic HCM; Noonan syndrome
Paediatric or syndromic cardiomyopathy v0.1 SLC25A4 Ivone Leong gene: SLC25A4 was added
gene: SLC25A4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport; Hypertrophic cardiomyopathy; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Disorders of mitochondrial DNA maintenance and integrity
Paediatric or syndromic cardiomyopathy v0.1 SLC25A20 Ivone Leong gene: SLC25A20 was added
gene: SLC25A20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Paediatric or syndromic cardiomyopathy v0.1 SLC22A5 Ivone Leong gene: SLC22A5 was added
gene: SLC22A5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC22A5 were set to 24816252; 27604308
Phenotypes for gene: SLC22A5 were set to DCM; Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; HCM, mixed; Carnitine transporter deficiency (primary carnitine deficiency)
Paediatric or syndromic cardiomyopathy v0.1 SHOC2 Ivone Leong gene: SHOC2 was added
gene: SHOC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 22528146; 23918763; PMID: 19684605
Phenotypes for gene: SHOC2 were set to syndromic HCM; Noonan-like syndrome with loose anagen hair
Paediatric or syndromic cardiomyopathy v0.1 SGSH Ivone Leong gene: SGSH was added
gene: SGSH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIA
Paediatric or syndromic cardiomyopathy v0.1 SGCD Ivone Leong gene: SGCD was added
gene: SGCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L
Paediatric or syndromic cardiomyopathy v0.1 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Mitochondrial Respiratory Chain Complex II Deficiency; Leigh syndrome, 256000; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial respiratory chain complex II deficiency, 252011; Isolated complex II deficiency; Cardiomyopathy, dilated, 1GG
Paediatric or syndromic cardiomyopathy v0.1 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Isolated complex IV deficiency; Mitochondrial Diseases; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Respiratory Chain Complex IV Deficiency
Paediatric or syndromic cardiomyopathy v0.1 SCN5A Ivone Leong gene: SCN5A was added
gene: SCN5A was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: SCN5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN5A were set to 24317018; doi:10. 1007/ s12265-016-9673-5
Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Long QT syndrome; Brugada syndrome; Cardiomyopathy, dilated, 1E; Arrhythmogenic right ventricular cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 RYR2 Ivone Leong gene: RYR2 was added
gene: RYR2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 RIT1 Ivone Leong gene: RIT1 was added
gene: RIT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 24939608; PMID: 23791108; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8
Paediatric or syndromic cardiomyopathy v0.1 RBM20 Ivone Leong gene: RBM20 was added
gene: RBM20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD
Paediatric or syndromic cardiomyopathy v0.1 RAF1 Ivone Leong gene: RAF1 was added
gene: RAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to PMID: 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome 5; syndromic HCM; LEOPARD syndrome; LEOPARD syndrome 2
Paediatric or syndromic cardiomyopathy v0.1 PTPN11 Ivone Leong gene: PTPN11 was added
gene: PTPN11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome
Paediatric or syndromic cardiomyopathy v0.1 PRKAG2 Ivone Leong gene: PRKAG2 was added
gene: PRKAG2 was added to Cardiomyopathies - including childhood onset. Sources: London South GLHSouth West GLH,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Phenotypes for gene: PRKAG2 were set to Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Cardiomyopathy, familial hypertrophic 6,; syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 PPP1R13L Ivone Leong gene: PPP1R13L was added
gene: PPP1R13L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 15661756; 28864777; 19016676; 28069640; 25691752
Phenotypes for gene: PPP1R13L were set to sudden cardiac death; cardio-cutaneous syndrome
Paediatric or syndromic cardiomyopathy v0.1 PPP1CB Ivone Leong gene: PPP1CB was added
gene: PPP1CB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Paediatric or syndromic cardiomyopathy v0.1 PPA2 Ivone Leong gene: PPA2 was added
gene: PPA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Paediatric or syndromic cardiomyopathy v0.1 PNPLA2 Ivone Leong gene: PNPLA2 was added
gene: PNPLA2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA2 were set to DCM; Neutral lipid storage disease with myopathy NLSDM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
Paediatric or syndromic cardiomyopathy v0.1 PLN Ivone Leong gene: PLN was added
gene: PLN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P; Cardiomyopathy, familial hypertrophic, 18,
Paediatric or syndromic cardiomyopathy v0.1 PKP2 Ivone Leong gene: PKP2 was added
gene: PKP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9
Paediatric or syndromic cardiomyopathy v0.1 PCCB Ivone Leong gene: PCCB was added
gene: PCCB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); DCM; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Propionicacidemia; Propionic aciduria; Propionicacidemia 606054; Propionic acidemia; Propionic aciduria (Organic acidurias)
Paediatric or syndromic cardiomyopathy v0.1 PCCA Ivone Leong gene: PCCA was added
gene: PCCA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to DCM; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Propionicacidemia; Propionic aciduria; Propionicacidemia 606054; Propionic acidemia; Propionic aciduria (Organic acidurias); metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Paediatric or syndromic cardiomyopathy v0.1 NRAS Ivone Leong gene: NRAS was added
gene: NRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19775298; PMID: 19966803
Phenotypes for gene: NRAS were set to CFC Syndrome; Noonan syndrome; syndromic HCM; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome
Paediatric or syndromic cardiomyopathy v0.1 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 12707950; 19845691; PMID: 16380919
Phenotypes for gene: NF1 were set to Neurofibromatosis syndrome 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis-Noonan Syndrome
Paediatric or syndromic cardiomyopathy v0.1 NEXN Ivone Leong gene: NEXN was added
gene: NEXN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC; Cardiomyopathy, familial hypertrophic, 20,
Paediatric or syndromic cardiomyopathy v0.1 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
Paediatric or syndromic cardiomyopathy v0.1 MYL3 Ivone Leong gene: MYL3 was added
gene: MYL3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,
Paediatric or syndromic cardiomyopathy v0.1 MYL2 Ivone Leong gene: MYL2 was added
gene: MYL2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10
Paediatric or syndromic cardiomyopathy v0.1 MYH7 Ivone Leong gene: MYH7 was added
gene: MYH7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYH7 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,
Paediatric or syndromic cardiomyopathy v0.1 MYH6 Ivone Leong gene: MYH6 was added
gene: MYH6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14
Paediatric or syndromic cardiomyopathy v0.1 MYBPC3 Ivone Leong gene: MYBPC3 was added
gene: MYBPC3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy; Left ventricular noncompaction 10,
Paediatric or syndromic cardiomyopathy v0.1 MUT Ivone Leong gene: MUT was added
gene: MUT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to DCM; Methylmalonic aciduria, mut(0) type 251000; Hypertrophic-hypocontractile cardiomyopathy; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonyl-CoA mutase deficiency (Organic acidurias); metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Paediatric or syndromic cardiomyopathy v0.1 MRPL44 Ivone Leong gene: MRPL44 was added
gene: MRPL44 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Paediatric or syndromic cardiomyopathy v0.1 MMACHC Ivone Leong gene: MMACHC was added
gene: MMACHC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400; DCM; Methylmalonic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Hypertrophic-hypocontractile cardiomyopathy
Paediatric or syndromic cardiomyopathy v0.1 MLYCD Ivone Leong gene: MLYCD was added
gene: MLYCD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308
Phenotypes for gene: MLYCD were set to 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); malonic aciduria; Hypertrophic-hypocontractile cardiomyopathy; Malonyl-CoA decarboxylase deficiency; Mild clinical features. Developmental delay, epilepsy; Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); HCM
Paediatric or syndromic cardiomyopathy v0.1 MAP2K2 Ivone Leong gene: MAP2K2 was added
gene: MAP2K2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 MAP2K1 Ivone Leong gene: MAP2K1 was added
gene: MAP2K1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583
Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 15622532; 18551513; 15148145
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, AD, 181350; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic; Congenital Muscular Dystrophy, LMNA-related (Dominant); Cardiomyopathy, dilated, 1A
Paediatric or syndromic cardiomyopathy v0.1 LDB3 Ivone Leong gene: LDB3 was added
gene: LDB3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C
Paediatric or syndromic cardiomyopathy v0.1 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to syndromic HCM; Danon disease
Paediatric or syndromic cardiomyopathy v0.1 KRAS Ivone Leong gene: KRAS was added
gene: KRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to PMID: 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome 3
Paediatric or syndromic cardiomyopathy v0.1 JUP Ivone Leong gene: JUP was added
gene: JUP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12
Paediatric or syndromic cardiomyopathy v0.1 IDUA Ivone Leong gene: IDUA was added
gene: IDUA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis Is, 607016; Hurler syndrome; Mucopolysaccharidosis Ih/s, 607015; Scheie syndrome; Mucopolysaccharidosis, Type I; Hurler-Scheie syndrome; Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1H
Paediatric or syndromic cardiomyopathy v0.1 IDS Ivone Leong gene: IDS was added
gene: IDS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II
Paediatric or syndromic cardiomyopathy v0.1 IDH2 Ivone Leong gene: IDH2 was added
gene: IDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 20847235; 24049096
Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2; D-2-hydroxyglutaric aciduria 2, 613657
Paediatric or syndromic cardiomyopathy v0.1 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to PMID: 16170316; 21396583; 16969868; 16443854
Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM
Paediatric or syndromic cardiomyopathy v0.1 HGSNAT Ivone Leong gene: HGSNAT was added
gene: HGSNAT was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Retinitis Pigmentosa 73; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Paediatric or syndromic cardiomyopathy v0.1 HFE Ivone Leong gene: HFE was added
gene: HFE was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to DCM; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Haemochromatosis; Hemochromatosis, 235200; Hemochromatosis; HCM
Paediatric or syndromic cardiomyopathy v0.1 HADHB Ivone Leong gene: HADHB was added
gene: HADHB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; Mitochondrial Trifunctional Protein deficiency; HCM
Paediatric or syndromic cardiomyopathy v0.1 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; Mitochondrial Trifunctional Protein deficiency; HCM
Paediatric or syndromic cardiomyopathy v0.1 GUSB Ivone Leong gene: GUSB was added
gene: GUSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis VII, 253220; MUCOPOLYSACCHARIDOSIS TYPE 7; syndromic HCM; Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII
Paediatric or syndromic cardiomyopathy v0.1 GNS Ivone Leong gene: GNS was added
gene: GNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis Type III
Paediatric or syndromic cardiomyopathy v0.1 GLRA1 Ivone Leong gene: GLRA1 was added
gene: GLRA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400
Paediatric or syndromic cardiomyopathy v0.1 GLB1 Ivone Leong gene: GLB1 was added
gene: GLB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); syndromic HCM; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type II, 230600; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV
Paediatric or syndromic cardiomyopathy v0.1 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, 301500; HCM is a late complication in adults, also found in female carriers; Limb pain, angiokeratom; syndromic HCM; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry Disease; Fabry disease; HCM
Paediatric or syndromic cardiomyopathy v0.1 GBE1 Ivone Leong gene: GBE1 was added
gene: GBE1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to DCM; Glycogen Storage Disease Type IV; Hypertrophic-hypocontractile cardiomyopathy; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease IV, 232500
Paediatric or syndromic cardiomyopathy v0.1 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Paediatric or syndromic cardiomyopathy v0.1 GAA Ivone Leong gene: GAA was added
gene: GAA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Hypotonia, muscle weakness, progressive respiratory failure; syndromic HCM; HCM, mixed; Glycogen storage disease II, 232300; Glycogen storage disease type II (Pompe disease)
Paediatric or syndromic cardiomyopathy v0.1 FKTN Ivone Leong gene: FKTN was added
gene: FKTN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27604308
Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Cardiomyopathy, dilated, 1X; Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Paediatric or syndromic cardiomyopathy v0.1 FHL1 Ivone Leong gene: FHL1 was added
gene: FHL1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Paediatric or syndromic cardiomyopathy v0.1 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I; Tyrosinaemia type 1 (fumarylactoacetase deficiency); HCM
Paediatric or syndromic cardiomyopathy v0.1 EYA4 Ivone Leong gene: EYA4 was added
gene: EYA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J
Paediatric or syndromic cardiomyopathy v0.1 ETFDH Ivone Leong gene: ETFDH was added
gene: ETFDH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 24816252; 27604308
Phenotypes for gene: ETFDH were set to Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIC; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM
Paediatric or syndromic cardiomyopathy v0.1 ETFB Ivone Leong gene: ETFB was added
gene: ETFB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation); HCM
Paediatric or syndromic cardiomyopathy v0.1 ETFA Ivone Leong gene: ETFA was added
gene: ETFA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM
Paediatric or syndromic cardiomyopathy v0.1 EPG5 Ivone Leong gene: EPG5 was added
gene: EPG5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 23838600; 26917586; 25331754; 23674064; 26395118; 28624465
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Paediatric or syndromic cardiomyopathy v0.1 DSP Ivone Leong gene: DSP was added
gene: DSP was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8
Paediatric or syndromic cardiomyopathy v0.1 DSG2 Ivone Leong gene: DSG2 was added
gene: DSG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSG2 were set to Cardiomyopathy, dilated, 1BB,; Arrhythmogenic right ventricular dysplasia 10
Paediatric or syndromic cardiomyopathy v0.1 DSC2 Ivone Leong gene: DSC2 was added
gene: DSC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11
Paediatric or syndromic cardiomyopathy v0.1 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 23890587; 17273964; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type Im 610768; syndromic DCM
Paediatric or syndromic cardiomyopathy v0.1 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 27426421; 27604308; 16055927; 27928778; 22797137
Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V
Paediatric or syndromic cardiomyopathy v0.1 DMD Ivone Leong gene: DMD was added
gene: DMD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DMD 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: DMD were set to Duchenne muscular dystrophy, 310200; Dilated Cardiomyopathy, X-Linked; Cardiomyopathy, dilated, 3B; Becker muscular dystrophy, 300376
Paediatric or syndromic cardiomyopathy v0.1 DES Ivone Leong gene: DES was added
gene: DES was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I,
Paediatric or syndromic cardiomyopathy v0.1 CSRP3 Ivone Leong gene: CSRP3 was added
gene: CSRP3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12; Cardiomyopathy, dilated, 1M
Paediatric or syndromic cardiomyopathy v0.1 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 24816252; 27604308
Phenotypes for gene: CPT2 were set to DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649
Paediatric or syndromic cardiomyopathy v0.1 CPS1 Ivone Leong gene: CPS1 was added
gene: CPS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 24816252; 27604308
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Paediatric or syndromic cardiomyopathy v0.1 CBL Ivone Leong gene: CBL was added
gene: CBL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 20543203; 19571318; PMID: 20619386
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Paediatric or syndromic cardiomyopathy v0.1 BRAF Ivone Leong gene: BRAF was added
gene: BRAF was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 21396583; PMID: 19206169
Phenotypes for gene: BRAF were set to Noonan Syndrome; syndromic HCM; LEOPARD syndrome 3; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous Syndrome
Paediatric or syndromic cardiomyopathy v0.1 BAG3 Ivone Leong gene: BAG3 was added
gene: BAG3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH
Paediatric or syndromic cardiomyopathy v0.1 B3GAT3 Ivone Leong gene: B3GAT3 was added
gene: B3GAT3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27604308
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Paediatric or syndromic cardiomyopathy v0.1 ARSB Ivone Leong gene: ARSB was added
gene: ARSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VI
Paediatric or syndromic cardiomyopathy v0.1 AGL Ivone Leong gene: AGL was added
gene: AGL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308
Phenotypes for gene: AGL were set to Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease type IIIa (debrancher enzyme deficiency); syndromic HCM; Glycogen storage disease IIIb, 232400; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; Glycogen Storage Disease; Glycogen Storage Disease Type III; Glycogen storage disease IIIa, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type III, Cori (Glycogen storage disorders); HCM
Paediatric or syndromic cardiomyopathy v0.1 ACTN2 Ivone Leong gene: ACTN2 was added
gene: ACTN2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant
Paediatric or syndromic cardiomyopathy v0.1 ACTC1 Ivone Leong gene: ACTC1 was added
gene: ACTC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTC1 were set to Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left Ventricular Noncompaction Cardiomyopathy; Left ventricular noncompaction 4
Paediatric or syndromic cardiomyopathy v0.1 ACADVL Ivone Leong gene: ACADVL was added
gene: ACADVL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp; 27604308
Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); syndromic HCM; Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; HCM
Paediatric or syndromic cardiomyopathy v0.1 ABCC9 Ivone Leong gene: ABCC9 was added
gene: ABCC9 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Dilated Cardiomyopathy, Dominant; Cardiomyopathy, dilated, 1O
Paediatric or syndromic cardiomyopathy v0.1 AARS2 Ivone Leong gene: AARS2 was added
gene: AARS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Paediatric or syndromic cardiomyopathy v0.0 Ivone Leong Added Panel Cardiomyopathies - including childhood onset
Set list of related panels to Paediatric or syndromic cardiomyopathy
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease