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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PYROXD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 |
Achchuthan Shanmugasundram changed review comment from: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother. PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting. PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.; to: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother. PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting. PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation. This gene has not yet been associated with LGMD either in OMIM or in Gene2Phenotype. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 |
Achchuthan Shanmugasundram changed review comment from: PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive limb-girdle-type muscular dystrophy (LGMD) phenotype of symmetric muscle weakness and wasting. PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.; to: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother. PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting. PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review. Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants.; to: Comment on list classification: There is sufficient number of cases (6 unrelated cases) to promote this gene to GREEN at the next major review. Although the same variant (p.Asn155Ser) has been identified in all patients reported with homozygous variants, two patients with compound heterozygous variants harboured p.Asn155Ser together with novel variants. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 | Achchuthan Shanmugasundram edited their review of gene: PYROXD1: Changed publications to: 30345904, 30515627, 33694278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | PYROXD1 | Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 | Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review. Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 | Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 | Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review. Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 | PYROXD1 | Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.1 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30515627, 33694278; Phenotypes: limb-girdle muscular dystrophy, MONDO:0016971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 | PYROXD1 |
Zornitza Stark gene: PYROXD1 was added gene: PYROXD1 was added to Limb girdle muscular dystrophy. Sources: Expert list Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833 Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy Review for gene: PYROXD1 was set to AMBER Added comment: Reported in >3 families, but phenotype varies from early onset myopathy to a later, more LGMD-like presentation. Recurring variant, Asn155ser, identified in multiple families of different ethnicity. Age of onset variable between families. Mostly normal CK levels PMID: 30345904: 1 family reported with Asn155Ser variant. Normal CK level. Progressive muscle weakness began at the age of 9. PMID: 30515627: 3 Finnish families reported, Asn155Ser, reported on at least one allele. Patients presented with LGMD-type phenotype, onset >20. EMG showed myopathic changes. Normal CK levels. PMID: 27745833: 5 families reported (includes 2 consang Turkish families, hom Asn155Ser). Authors concluded gene as causative for early-onset myopathy, normal to moderately elevated CK levels. EMG was myopathic in all individuals tested Sources: Expert list |
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