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| Congenital myopathy v4.24 | TPM2 | Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.24 | TPM2 | Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.24 | TPM2 | Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: Three unrelated cases are reported with biallelic variants in TPM2. This is sufficient evidence to update the MOI from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next major review.; to: Comment on mode of inheritance: Three unrelated cases are reported with biallelic variants in TPM2. This is sufficient evidence to update the MOI from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.24 | TPM2 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Three unrelated cases are reported with biallelic variants in TPM2. This is sufficient evidence to update the MOI from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.24 | TPM2 | Achchuthan Shanmugasundram Mode of inheritance for gene: TPM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.23 | TPM2 |
Achchuthan Shanmugasundram changed review comment from: PMID:19155175 reported the identification of a homozygous null variant in TPM2 gene in a patient presented with nemaline myopathy associated with a non-lethal multiple pterygium syndrome. Among 28 patients from 27 families reported in PMID:24692096, only one patient presenting with nemaline myopathy and pterygia was identified with recessive TPM2 variant. A homozygous intronic sequence variant was identified in the patient reported with Escobar variant of multiple pterygium syndrome and congenital myopathy in PMID:33558124. Only phenotypes associated with monoallelic variants (and NOT biallelic variants) are currently reported in OMIM and in Gene2Phenotype. ; to: PMID:19155175 reported the identification of a homozygous null variant in TPM2 gene in a patient presented with nemaline myopathy associated with a non-lethal multiple pterygium syndrome. Among 28 patients from 27 families reported in PMID:24692096, only one patient presenting with nemaline myopathy and pterygia was identified with recessive TPM2 variant. A homozygous intronic sequence variant was identified in the patient reported with Escobar variant of multiple pterygium syndrome and congenital myopathy in PMID:33558124. Only phenotypes associated with monoallelic variants (and NOT biallelic variants) are currently reported in OMIM and in Gene2Phenotype. |
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| Congenital myopathy v4.23 | TPM2 |
Achchuthan Shanmugasundram changed review comment from: Three unrelated cases were reported with biallelic variants in TPM2.; to: PMID:19155175 reported the identification of a homozygous null variant in TPM2 gene in a patient presented with nemaline myopathy associated with a non-lethal multiple pterygium syndrome. Among 28 patients from 27 families reported in PMID:24692096, only one patient presenting with nemaline myopathy and pterygia was identified with recessive TPM2 variant. A homozygous intronic sequence variant was identified in the patient reported with Escobar variant of multiple pterygium syndrome and congenital myopathy in PMID:33558124. Only phenotypes associated with monoallelic variants (and NOT biallelic variants) are currently reported in OMIM and in Gene2Phenotype. |
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| Congenital myopathy v4.23 | TPM2 | Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19155175, 24692096, 33558124; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.2 | TPM2 | Anna Sarkozy edited their review of gene: TPM2: Added comment: comment re inheritance: recessive TPM2 pathogenic variant has been described in a patient with multiple pterygium syndrome and congenital myopathy. heterozygous carrier parents were unaffected, supporting recessive inheritance of the variant.; Changed publications to: 33558124; Changed phenotypes to: CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.111 | TPM2 | Arina Puzriakova Phenotypes for gene: TPM2 were changed from CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Congenital myopathy, MONDO:0019952; Multiple pterygium syndrome, MONDO:0017415 to CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.110 | TPM2 | Arina Puzriakova Tag watchlist_moi tag was added to gene: TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.55 | TPM2 | Ivone Leong commented on gene: TPM2: As there are only currently 2 homozygous cases, there is currently not enough evidence to support a change in MOI. It should also be noted that the parents (heterozygous for the variants) were asymptomatic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.55 | TPM2 | Ivone Leong Phenotypes for gene: TPM2 were changed from CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Arthrogryposis multiplex congenita, distal, type1, OMIM:108120: Arthrogryposis, distal, type 2B, OMIM:601680; Congenital myopathy, MONDO:0019952; Multiple pterygium syndrome, MONDO:0017415 to CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Congenital myopathy, MONDO:0019952; Multiple pterygium syndrome, MONDO:0017415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.54 | TPM2 | Ivone Leong Phenotypes for gene: TPM2 were changed from CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Arthrogryposis multiplex congenita, distal, type1, OMIM:108120: Arthrogryposis, distal, type 2B, OMIM:601680 to CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Arthrogryposis multiplex congenita, distal, type1, OMIM:108120: Arthrogryposis, distal, type 2B, OMIM:601680; Congenital myopathy, MONDO:0019952; Multiple pterygium syndrome, MONDO:0017415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.53 | TPM2 | Ivone Leong Added comment: Comment on publications: PMID: 19155175 and 33558124 describe the 2 homozygous cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.53 | TPM2 | Ivone Leong Publications for gene: TPM2 were set to 12592607; 11738357; 17434307; 24692096; 32092148; 27726070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.52 | TPM2 | Ivone Leong Phenotypes for gene: TPM2 were changed from CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680 to CAP myopathy 2, OMIM:609285; Nemaline myopathy 4, autosomal dominant, OMIM:609285; Arthrogryposis multiplex congenita, distal, type1, OMIM:108120: Arthrogryposis, distal, type 2B, OMIM:601680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.48 | TPM2 | Ivone Leong Publications for gene: TPM2 were set to 12592607; 11738357; 17434307; 24692096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.28 | TPM2 | Zornitza Stark reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32092148, 27726070; Phenotypes: Congenital myopathy, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.148 | TPM2 | Louise Daugherty Publications for gene: TPM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.147 | TPM2 | Louise Daugherty Phenotypes for gene: TPM2 were changed from CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285 to CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.120 | TPM2 | Rachael Mein edited their review of gene: TPM2: Changed publications: 12592607, 11738357, 17434307; Changed phenotypes: CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.76 | TPM2 | Louise Daugherty reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.75 | TPM2 | Rachael Mein reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332920; Phenotypes: Myopathy, tubular aggregate, 160565; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.74 | TPM2 | Louise Daugherty Source NHS GMS was added to TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.73 | TPM2 |
Louise Daugherty Source London South GLH was added to TPM2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Congenital myopathy | TPM2 | Anna Sarkozy reviewed TPM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | TPM2 | Helen Brittain marked TPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | TPM2 | Helen Brittain reviewed TPM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||