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| 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). |
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| 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 | 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 v0.16 | LDB3 | Ivone Leong reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
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| 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 |
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