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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 | POPDC3 | Sarah Leigh Classified gene: POPDC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 | POPDC3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 | POPDC3 | Sarah Leigh Gene: popdc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 | POPDC3 |
Sarah Leigh Tag watchlist was removed from gene: POPDC3. Tag Q1_24_promote_green tag was added to gene: POPDC3. Tag Q1_24_NHS_review tag was added to gene: POPDC3. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 | POPDC3 | Sarah Leigh reviewed gene: POPDC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 | POPDC3 | Sarah Leigh Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848; muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.28 | POPDC3 | Sarah Leigh Publications for gene: POPDC3 were set to 31610034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 | POPDC3 | Hannah Knight reviewed gene: POPDC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35075722, 35842834, 37104941; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 26; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 | POPDC3 | Arina Puzriakova Tag watchlist tag was added to gene: POPDC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 | POPDC3 | Arina Puzriakova Mode of inheritance for gene: POPDC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 | POPDC3 | Arina Puzriakova Classified gene: POPDC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 | POPDC3 | Arina Puzriakova Added comment: Comment on list classification: Since the initial report no further cohorts have been released validating POPDC3 variants in limb girdle muscular dystrophy. Given this and the lack of complete segregation studies, rating as Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 | POPDC3 | Arina Puzriakova Gene: popdc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.27 | POPDC3 | Arina Puzriakova reviewed gene: POPDC3: Rating: ; Mode of pathogenicity: None; Publications: 31610034; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.27 | POPDC3 | Arina Puzriakova Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.26 | POPDC3 | Arina Puzriakova Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.18 | POPDC3 |
Agnese Zarina gene: POPDC3 was added gene: POPDC3 was added to Limb girdle muscular dystrophy. Sources: Literature Mode of inheritance for gene: POPDC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620 Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26 Review for gene: POPDC3 was set to AMBER Added comment: Sources: Literature |
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