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Congenital myopathy v4.37 ASCC3 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700)
Congenital myopathy v4.37 ASCC3 Arina Puzriakova Phenotypes for gene: ASCC3 were changed from congenital myopathy, MONDO:0019952 to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Congenital myopathy v4.36 ASCC3 Arina Puzriakova Tag gene-checked was removed from gene: ASCC3.
Congenital myopathy v4.36 VWA1 Eleanor Williams Classified gene: VWA1 as Amber List (moderate evidence)
Congenital myopathy v4.36 VWA1 Eleanor Williams Added comment: Comment on list classification: Promoting to amber, with a recommendation for consideration for a green rating following expert review as to whether the phenotype fits the scope of the congenital myopathy panel.
Congenital myopathy v4.36 VWA1 Eleanor Williams Gene: vwa1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.35 VWA1 Eleanor Williams gene: VWA1 was added
gene: VWA1 was added to Congenital myopathy. Sources: Literature
Q1_24_promote_green, Q1_24_expert_review tags were added to gene: VWA1.
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to 33459760
Phenotypes for gene: VWA1 were set to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Added comment: In PMID: 33459760 Deschauer et al 2021 report 15 affected individuals from six families of German, Arabic, and Roma descent with biallelic loss of function variants in VWA1 and a neuromuscular phenotype. In 3 of the families the onset of symptoms was in childhood (ages 2-18yr in F3, ages 2-3yr in F4, and at school age in F5). Muscle biopsies of 3 individuals (F1-II.2, F2-II.1, and F5-II.1) revealed myopathic changes. A 10-bp tandem repeat is duplicated in one variant (p.Gly25Argfs*74]) and deleted in another variant (p.Gly21Alafs*12]). The duplication was found in 3 German families, homozygous in one and compound heterozygous in the other two.

PMID: 33559681 Pagnamenta et al 2021 report 17 individuals from 15 families with an autosomal-recessive, hereditary motor neuropathy and rare biallelic variants in VWA1. The p.(G25Rfs*74) 10-bp repeat expansion was observed in 14/15 families and was homozygous in 10/15. The authors state that the mean age of symptom recognition was 2.0 ± 1.4 years with tip-toe walking, foot deformities, Achilles tendon contractures, and recurrent hip and patellar dislocations.

Given the young age of onset in some patients and myopathy seen in biopsys this gene may be a candidate for green rating on this panel, subject to expert review.
Sources: Literature
Congenital myopathy v4.34 TNNT1 Achchuthan Shanmugasundram Publications for gene: TNNT1 were set to 26296490; 25430424; 32994279
Congenital myopathy v4.33 SELENON Achchuthan Shanmugasundram edited their review of gene: SELENON: Changed phenotypes to: Muscular dystrophy, rigid spine, 1, OMIM:602771
Congenital myopathy v4.33 LETM1 Eleanor Williams Tag Q3_23_NHS_review tag was added to gene: LETM1.
Congenital myopathy v4.31 RYR3 Arina Puzriakova Phenotypes for gene: RYR3 were changed from Nemaline myopathy, MONDO:0018958 to Congenital myopathy 20, OMIM:620310; Nemaline myopathy, MONDO:0018958
Congenital myopathy v4.30 RYR3 Arina Puzriakova Tag gene-checked was removed from gene: RYR3.
Congenital myopathy v4.30 LETM1 Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1.
Congenital myopathy v4.30 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%), myopathy 6/12 (50%) (PMID: 36055214, figure 1c).
Congenital myopathy v4.30 LETM1 Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42
Congenital myopathy v4.30 LETM1 Sarah Leigh gene: LETM1 was added
gene: LETM1 was added to Congenital myopathy. 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
Congenital myopathy v4.29 UNC45B Eleanor Williams commented on gene: UNC45B
Congenital myopathy v4.29 UNC45B Eleanor Williams Tag to_be_confirmed_NHSE was removed from gene: UNC45B.
Congenital myopathy v4.29 KY Eleanor Williams changed review comment from: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.; to: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy and so should be included in the next data review. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.
Congenital myopathy v4.29 KY Eleanor Williams changed review comment from: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician.; to: Removed the to_be_confirmed_NHSE tag because this gene has been re-reviewed by an NHSE clinician Anna Sarkozy. Tag added in March 2022, re-reviewed in Nov 2022, removed June 2023.
Congenital myopathy v4.29 KY Eleanor Williams commented on gene: KY
Congenital myopathy v4.29 KY Eleanor Williams Tag to_be_confirmed_NHSE was removed from gene: KY.
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TRDN.
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TRDN.
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Classified gene: TRDN as Amber List (moderate evidence)
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence (9 unrelated cases) for promoting this gene to Green at the next major review.
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Gene: trdn has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.28 TRDN Achchuthan Shanmugasundram Publications for gene: TRDN were set to 25922419; 28202702
Congenital myopathy v4.27 TRDN Achchuthan Shanmugasundram reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25922419, 28202702, 30649896; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to that has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to what has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: ZC4H2.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ZC4H2.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Classified gene: ZC4H2 as Amber List (moderate evidence)
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital) and others, variants in ZC4H2 cause a clinical phenotype that includes congenital arthrogryposis, joint contractures and muscle weakness similar to that has been seen in structural myopathies. As there is sufficient number of cases, this gene can be promoted to green at the next major review.
Congenital myopathy v4.27 ZC4H2 Achchuthan Shanmugasundram Gene: zc4h2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.26 ZC4H2 Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v4.26 ACTN2 Achchuthan Shanmugasundram reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30701273; Phenotypes: Congenital myopathy 8, OMIM:618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v4.26 TNNI2 Achchuthan Shanmugasundram reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v4.26 ECEL1 Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v4.26 ADSSL1 Achchuthan Shanmugasundram edited their review of gene: ADSSL1: Changed rating: GREEN
Congenital myopathy v4.26 ADSSL1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases.

Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205).

However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age.

PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype,; to: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in the reported cases.

Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205).

Patients reported in PMIDs: 26506222 & 28268051 developed diffuse muscle weakness initially around 5-8 years of age, although distal leg weakness started at adolescence (13-17 years of age).

PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype.

As the diffuse muscle weakness started at childhood in at least nine cases and there is a case with congenital joint contractures, and this gene was added green as per expert review, we should keep this gene green on this panel.
Congenital myopathy v4.26 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: CCDC78.
Congenital myopathy v4.26 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Changed phenotypes to: centronuclear myopathy-4, OMIM:614807
Congenital myopathy v4.26 ADSSL1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases.

Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients.

However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age.

PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype,; to: As reviewed by Zornitza Stark (Australian Genomics), evidence from scientific literature show that the onset of distal myopathy caused by ADSSL1 variants is during late childhood/ adolescence in majority of reported cases.

Patients with ADSSL1 myopathy typically visit the hospital for muscle weakness during adulthood; however, all the patients have a history of being the slowest runner among their peers during childhood, which is a characteristic feature of ADSSL1 myopathy. Patients with ADSSL1 myopathy develop distal muscle weakness, including significant post-puberty grip weakness, which occurs in all patients (PMID:35668205).

However, the review of previously reported patients in PMID:28268051 described patients with early childhood onset, with the youngest patient reported at 5 years of age.

PMID:31680123 reported one case identified with homozygous frameshift variant and presented with congenital joint contractures and a more severe neurological phenotype,
Congenital myopathy v4.26 ADSSL1 Achchuthan Shanmugasundram reviewed gene: ADSSL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26506222, 28268051, 31680123, 32331917, 32646962, 35668205; Phenotypes: Myopathy, distal, 5, OMIM:617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.26 BIN1 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: BIN1.
Congenital myopathy v4.26 BIN1 Achchuthan Shanmugasundram Publications for gene: BIN1 were set to 17676042; 27854204; 25260562
Congenital myopathy v4.25 BIN1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Only one case with monoallelic BIN1 variant has been reported with childhood-onset myopathy. As there are not sufficient cases, the MOI should remain as "BIALLELIC, autosomal or pseudoautosomal" for now.

"watchlist_moi" tag has been added to review the MOI when new evidence becomes available.
Congenital myopathy v4.25 BIN1 Achchuthan Shanmugasundram Mode of inheritance for gene: BIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.24 BIN1 Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: ; Mode of pathogenicity: None; Publications: 29103045; Phenotypes: ; Mode of inheritance: None
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.
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.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: TNNT1.
Tag Q2_23_NHS_review tag was added to gene: TNNT1.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TNNT1.
Tag Q2_23_NHS_review was removed from gene: TNNT1.
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 v4.23 TNNT1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TNNT1.
Tag Q2_23_NHS_review tag was added to gene: TNNT1.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Anna Sarkozy, monoallelic variants in TNNT1 have been reported in two unrelated families with nemaline myopathy and supported by in vitro functional studies. There is sufficient evidence available for updating the MOI from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review.
Congenital myopathy v4.23 TNNT1 Achchuthan Shanmugasundram Mode of inheritance for gene: TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.22 TNNT1 Achchuthan Shanmugasundram reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29178646, 35510366; Phenotypes: Nemaline myopathy 5, Amish type, OMIM:605355; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.22 NEB Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: NEB.
Congenital myopathy v4.22 NEB Achchuthan Shanmugasundram commented on gene: NEB
Congenital myopathy v4.22 MYH7 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: MYH7.
Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: MYH3.
Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: MYH3.
Congenital myopathy v4.22 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Congenital myopathy v4.21 MYH3 Achchuthan Shanmugasundram Publications for gene: MYH3 were set to 18695058; 26578207; 29805041; 32902138
Congenital myopathy v4.21 MYH3 Achchuthan Shanmugasundram Publications for gene: MYH3 were set to 18695058; 26578207
Congenital myopathy v4.20 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.19 MYH3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Anna Sarkozy, there is sufficient evidence for updating the MOI of this gene from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next major review.
Congenital myopathy v4.19 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.18 MYH3 Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29805041, 32902138; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram commented on gene: DNM2: The "watchlist_moi" tag is added to this gene to review the MOI in light of any new evidence as there is one family reported with biallelic inheritance.
Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: DNM2.
Congenital myopathy v4.18 DNM2 Achchuthan Shanmugasundram Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368 to Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368
Congenital myopathy v4.17 DNM2 Achchuthan Shanmugasundram Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, OMIM:160150 to Centronuclear myopathy 1, OMIM:160150; Lethal congenital contracture syndrome 5, OMIM:615368
Congenital myopathy v4.16 DNM2 Achchuthan Shanmugasundram Publications for gene: DNM2 were set to 22396310
Congenital myopathy v4.15 DNM2 Achchuthan Shanmugasundram reviewed gene: DNM2: Rating: ; Mode of pathogenicity: None; Publications: 23092955; Phenotypes: Lethal congenital contracture syndrome 5, OMIM:615368; Mode of inheritance: None
Congenital myopathy v4.15 GBE1 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: GBE1.
Congenital myopathy v4.15 DNAJB4 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: DNAJB4.
Congenital myopathy v4.15 COL25A1 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: COL25A1.
Congenital myopathy v4.15 COL13A1 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: COL13A1.
Congenital myopathy v4.15 ASCC1 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: ASCC1.
Congenital myopathy v4.15 GBE1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: GBE1.
Congenital myopathy v4.15 GBE1 Achchuthan Shanmugasundram Classified gene: GBE1 as Amber List (moderate evidence)
Congenital myopathy v4.15 GBE1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), biallelic variants in GBE1 has been reported in sufficient number of cases presenting with fetal akinesia/hypokinesia, arthrogryposis multiplex congenita and severe congenital myopathies. Hence, this gene can be promoted to GREEN rating at the next major review.

This gene has been associated with phenotypes in both OMIM and Gene2Phenotype (with 'definitive' rating).
Congenital myopathy v4.15 GBE1 Achchuthan Shanmugasundram Gene: gbe1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.14 GBE1 Achchuthan Shanmugasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23218673, 26578207, 30303820, 30569318; Phenotypes: Glycogen storage disease IV, OMIM:232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.14 GBE1 Achchuthan Shanmugasundram Publications for gene: GBE1 were set to PMID: 23218673; 30303820; PMID: 26578207
Congenital myopathy v4.13 DNAJB4 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: DNAJB4.
Congenital myopathy v4.13 DNAJB4 Achchuthan Shanmugasundram Publications for gene: DNAJB4 were set to PMID: 36264506
Congenital myopathy v4.12 DNAJB4 Achchuthan Shanmugasundram Classified gene: DNAJB4 as Amber List (moderate evidence)
Congenital myopathy v4.12 DNAJB4 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence (three unrelated cases and functional evidence from mouse models) for promoting this gene to GREEN at the next major review.

This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with 'limited' rating.
Congenital myopathy v4.12 DNAJB4 Achchuthan Shanmugasundram Gene: dnajb4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.11 COL25A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL25A1.
Congenital myopathy v4.11 COL25A1 Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from rthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder to Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Congenital myopathy v4.10 COL25A1 Achchuthan Shanmugasundram Publications for gene: COL25A1 were set to PMID: 35077597
Congenital myopathy v4.9 COL25A1 Achchuthan Shanmugasundram Classified gene: COL25A1 as Amber List (moderate evidence)
Congenital myopathy v4.9 COL25A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As per expert review by Anna Sarkozy (Great Ormond Street Hospital), the condition caused by biallelic variants in this gene has overlap in clinical presentations with other forms of myopathies. Hence, this gene should be considered for promotion to green at the next major review.
Congenital myopathy v4.9 COL25A1 Achchuthan Shanmugasundram Gene: col25a1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.8 COL13A1 Achchuthan Shanmugasundram Classified gene: COL13A1 as Amber List (moderate evidence)
Congenital myopathy v4.8 COL13A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for the association of this gene with myopathy and hence it can be promoted to GREEN rating in the next major review.
Congenital myopathy v4.8 COL13A1 Achchuthan Shanmugasundram Gene: col13a1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.7 COL13A1 Achchuthan Shanmugasundram commented on gene: COL13A1: The 'treatable' tag has been added as salbutamol alone or in combination with 3,4-DAP was reported effective in all tested patients (PMID:31449669).
Congenital myopathy v4.7 COL13A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL13A1.
Congenital myopathy v4.7 COL13A1 Achchuthan Shanmugasundram Tag treatable tag was added to gene: COL13A1.
Congenital myopathy v4.7 COL13A1 Achchuthan Shanmugasundram Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19, OMIM:616720
Congenital myopathy v4.6 COL13A1 Achchuthan Shanmugasundram Publications for gene: COL13A1 were set to PMID: 30767057; 31081514
Congenital myopathy v4.5 COL13A1 Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30767057, 31018245, 31449669; Phenotypes: Myasthenic syndrome, congenital, 19, OMIM:616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (>3 unrelated cases and functional evidence from zebrafish model) for this gene to be promoted to GREEN rating at the next major review.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.; to: Comment on list classification: There is sufficient evidence (>3 unrelated cases and functional evidence from zebrafish model) for this gene to be promoted to GREEN rating at the next major review.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: ASCC1.
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram Classified gene: ASCC1 as Amber List (moderate evidence)
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases and functional evidence from zebrafish model) for this gene to be promoted to GREEN rating at the next major review.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram Gene: ascc1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.4 ASCC1 Achchuthan Shanmugasundram Phenotypes for gene: ASCC1 were changed from prenatal-onset muscle weakness; congenital onset myopathy; arthrogryposis; congenital bone fractures to Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
Congenital myopathy v4.3 ASCC1 Achchuthan Shanmugasundram Publications for gene: ASCC1 were set to PMID: 35838082; 30327447; 35690317
Congenital myopathy v4.2 ASCC1 Achchuthan Shanmugasundram reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529, 28218388, 30327447, 35276412, 35690317, 35838082; Phenotypes: Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.2 DNAJB4 Anna Sarkozy gene: DNAJB4 was added
gene: DNAJB4 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to PMID: 36264506
Phenotypes for gene: DNAJB4 were set to congenital myopathy with early respiratory failure
Penetrance for gene: DNAJB4 were set to unknown
Mode of pathogenicity for gene: DNAJB4 was set to Other
Review for gene: DNAJB4 was set to GREEN
Added comment: biallelic variants in DNAJB4 gene have now been described in three unrelated families, in particular stop gain and missense variants. the phenotype is characterised by axial rigidity and early respiratory failure between the 1st and 4th decade of life. muscle pathology is myopathic with protein inclusions and occasional rimmed vacuoles.
Sources: Literature
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 v4.2 TNNT1 Anna Sarkozy edited their review of gene: TNNT1: Added comment: comment re inheritance: both dominant and recessive TNNT1 gene variants have now been reported in patients with congenital myopathies. Dominant mutations are likely acting via a dominant negative mechanism; Changed publications to: 26296490, 25430424, 35510366, 29178646; Changed phenotypes to: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355, autpsomal dominant nemaline myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 NEB Anna Sarkozy edited their review of gene: NEB: Added comment: comment re inheritance: a large in frame deletion in the NEB gene have now been described in a three-generation family and was shown to cause the production of a smaller mutant nebulin protein. Thus, it was suggested that this novel mutant nebulin protein has a dominant-negative effect.; Changed publications to: 12207937, 30679003; Changed phenotypes to: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030, Dominantly inherited distal nemaline/cap myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 MYH7 Anna Sarkozy edited their review of gene: MYH7: Added comment: re inheritance mode: recessive variants in MYH7 are now well recognised in patients with congenital myopathies; Changed publications to: 15322983, 31130376, 31130376; Changed phenotypes to: Laing Distal Myopathy 160500, congenital myopathy
Congenital myopathy v4.2 MYH3 Anna Sarkozy edited their review of gene: MYH3: Added comment: Recessive MYH3 variants reported in patients with multiple pterygia and this disease entity is designated as "Contractures, pterygia, and variable skeletal fusions syndrome 1B," in OMIM.; Changed publications to: 18695058, 26578207, 32902138; Changed phenotypes to: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110, ontractures, pterygia, and variable skeletal fusions syndrome 1B; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v4.2 DNM2 Anna Sarkozy edited their review of gene: DNM2: Added comment: biallelic DNM2 variants were also described in three consanguineous patients with lethal congenital syndrome caractherised by akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. muscle biopsy and EMG showed myopathic features. in particular, muscle biopsy of one patient showed small rounded fibers with some centralized nuclei, suggestive of a congenital myopathy whereas biopsy of a 2nd patient showed atrophic fibers without obvious centralization of nuclei.; Changed publications to: 22396310, 23092955; Changed phenotypes to: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482, lethal congenital syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 BIN1 Anna Sarkozy edited their review of gene: BIN1: Added comment: Adult-onset autosomal dominant centronuclear myopathy, also with myalgia and CK elevation; Changed publications to: PMID: 25260562, 27854204; Changed phenotypes to: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200, dominant centronuclear myopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v4.2 ASCC1 Anna Sarkozy gene: ASCC1 was added
gene: ASCC1 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 35838082; 30327447; 35690317
Phenotypes for gene: ASCC1 were set to prenatal-onset muscle weakness; congenital onset myopathy; arthrogryposis; congenital bone fractures
Penetrance for gene: ASCC1 were set to unknown
Mode of pathogenicity for gene: ASCC1 was set to Other
Review for gene: ASCC1 was set to GREEN
Added comment: recessive pathogenic variants in ASCC1 gene have now been described in a number of unrelated individuals presenting with a spectrum of phenotypes ranging from prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures to milder presentations without fractures, in keeping with a diagnosis of congenital myopathy .
Sources: Literature
Congenital myopathy v4.2 COL13A1 Anna Sarkozy gene: COL13A1 was added
gene: COL13A1 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL13A1 were set to PMID: 30767057; 31081514
Penetrance for gene: COL13A1 were set to unknown
Mode of pathogenicity for gene: COL13A1 was set to Other
Added comment: Affected individuals may present mild non specific myopathic findings on muscle biopsy in addition to clinical features of congenital myasthenic syndrome thus strongly in differential with congenital myopathies.
Sources: Literature
Congenital myopathy v4.2 GBE1 Anna Sarkozy gene: GBE1 was added
gene: GBE1 was added to Congenital myopathy. Sources: Literature,Expert Review
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to PMID: 23218673; 30303820; PMID: 26578207
Phenotypes for gene: GBE1 were set to arthrogryposis multiplex congenita; foetal akinesias; fetal akinesia deformation sequence; severe congenital myopathy; multiple pterygium syndrome
Penetrance for gene: GBE1 were set to unknown
Mode of pathogenicity for gene: GBE1 was set to Other
Review for gene: GBE1 was set to GREEN
Added comment: recessive pathogenic variants in GBE1 gene responsible for GSD IV, have now been identified in a relevant number of patients presenting with severe early onset neuromuscular conditions, ranging from fetal akinesia deformation sequence, to arthrogryposis multiplex congenita and severe forms of congenital onset myopathies. given the major clinical overlap with severe forms of congenital myopathies, this gene should be considered in differential and included in the R81 panel and tested in patients with possible congenital myopathy.
Sources: Literature, Expert Review
Congenital myopathy v4.2 COL25A1 Anna Sarkozy gene: COL25A1 was added
gene: COL25A1 was added to Congenital myopathy. Sources: Expert list,Literature,Expert Review,Research
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to PMID: 35077597
Phenotypes for gene: COL25A1 were set to rthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Penetrance for gene: COL25A1 were set to unknown
Mode of pathogenicity for gene: COL25A1 was set to Other
Review for gene: COL25A1 was set to GREEN
Added comment: pathogenic recessive variants (missense and splice site) in the COL25A1 gene have now been described in three unrelated families (5 patients in total) presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder, normal CK and absence of abnormalities on EMG. Given similarities of presentations with other forms of myopathic contractural phenotypes and no/mild progression over time, this condition should be considered in differential for congenital myopathies, thus we would recommend to add this gene as green gene into the R81 panel.
Sources: Expert list, Literature, Expert Review, Research
Congenital myopathy v4.2 KLHL40 Achchuthan Shanmugasundram Publications for gene: KLHL40 were set to 23746549
Congenital myopathy v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Congenital myopathy v4.0 Arina Puzriakova promoted panel to version 4.0
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3. Hence, it has been removed here.; to: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3 and not with SELENON. Hence, it has been removed here.
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3. Hence, it has been removed here.
Congenital myopathy v3.125 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771
Congenital myopathy v3.124 ZC4H2 Anna Sarkozy reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.124 TRDN Anna Sarkozy reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:25922419, 28202702, 30649896; Phenotypes: skeletal myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v3.124 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
Congenital myopathy v3.124 ISCA-37429-Loss Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
Congenital myopathy v3.123 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital myopathy v3.123 ISCA-37420-Loss Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
Congenital myopathy v3.122 ISCA-37408-Loss Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Congenital myopathy v3.121 ISCA-37408-Loss Arina Puzriakova commented on Region: ISCA-37408-Loss
Congenital myopathy v3.121 ZC4H2 Arina Puzriakova Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Congenital myopathy v3.120 YARS2 Arina Puzriakova Phenotypes for gene: YARS2 were changed from Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 to Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
Congenital myopathy v3.119 VPS33B Arina Puzriakova Phenotypes for gene: VPS33B were changed from vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Congenital myopathy v3.118 VMA21 Arina Puzriakova Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to Myopathy, X-linked, with excessive autophagy, OMIM:310440
Congenital myopathy v3.117 VCP Arina Puzriakova Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
Congenital myopathy v3.116 UNC45B Arina Puzriakova Phenotypes for gene: UNC45B were changed from Myofibrillar myopathy 11, OMIM:619178; myofibrillar myopathy 11, MONDO:0030927 to Myofibrillar myopathy 11, OMIM:619178
Congenital myopathy v3.115 TTN Arina Puzriakova Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 to Salih myopathy, OMIM:611705
Congenital myopathy v3.114 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 to Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866
Congenital myopathy v3.113 TRDN Arina Puzriakova Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441
Congenital myopathy v3.112 TPM3 Arina Puzriakova Phenotypes for gene: TPM3 were changed from CAP myopathy 1 609284; Myopathy, congenital, with fiber-type disproportion 255310; Nemaline myopathy 1, autosomal dominant or recessive 609284 to CAP myopathy 1, OMIM:609284; Myopathy, congenital, with fiber-type disproportion, OMIM:255310; Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284
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 v3.110 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750 to Arthrogryposis, distal, type 2B2, OMIM:618435
Congenital myopathy v3.109 TNNT1 Arina Puzriakova Publications for gene: TNNT1 were set to 26296490; 25430424
Congenital myopathy v3.108 TNNT1 Arina Puzriakova Phenotypes for gene: TNNT1 were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 5, Amish type, 605355 to Nemaline myopathy 5, Amish type, OMIM:605355
Congenital myopathy v3.107 TNNI2 Arina Puzriakova Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B1, OMIM:601680
Congenital myopathy v3.106 TNNC2 Arina Puzriakova Phenotypes for gene: TNNC2 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161
Congenital myopathy v3.105 TIA1 Arina Puzriakova Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454
Congenital myopathy v3.104 SVIL Arina Puzriakova Phenotypes for gene: SVIL were changed from Myopathy to Myofibrillar myopathy 10, OMIM:619040
Congenital myopathy v3.103 STIM2 Arina Puzriakova Mode of inheritance for gene: STIM2 was changed from to Unknown
Congenital myopathy v3.102 STIM1 Arina Puzriakova Phenotypes for gene: STIM1 were changed from Myopathy, tubular aggregate, 160565 to Myopathy, tubular aggregate, 1, OMIM:160565
Congenital myopathy v3.101 STAC3 Arina Puzriakova Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch, 255995 to Myopathy, congenital, Baily-Bloch, OMIM:255995
Congenital myopathy v3.100 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from Nemaline myopathy to Nemaline myopathy, MONDO:0018958
Congenital myopathy v3.99 SPTBN4 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: SPTBN4.
Congenital myopathy v3.99 SPTBN4 Arina Puzriakova Publications for gene: SPTBN4 were set to 28540413; 29861105; 33772159
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Classified gene: SPTBN4 as Amber List (moderate evidence)
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Added comment: Comment on list classification: Overall there is evidence to support inclusion of this gene with a green rating on this panel. Given the phenotype features severe muscular hypotonia and weakness with relevant age of onset, it is plausible that patients may be tested under the congenital myopathy clinical indication.
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.97 SPTBN4 Arina Puzriakova reviewed gene: SPTBN4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v3.97 SPTBN4 Arina Puzriakova Publications for gene: SPTBN4 were set to 28540413
Congenital myopathy v3.96 SPTBN4 Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from ?Myopathy, congenital, with neuropathy and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Congenital myopathy v3.95 SPEG Arina Puzriakova Publications for gene: SPEG were set to PMID 25087613
Congenital myopathy v3.94 SPEG Arina Puzriakova Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5 615959 to Centronuclear myopathy 5, OMIM:615959
Congenital myopathy v3.93 SLC25A4 Arina Puzriakova Publications for gene: SLC25A4 were set to PMID:25732997; 27693233
Congenital myopathy v3.92 SLC25A4 Arina Puzriakova Phenotypes for gene: SLC25A4 were changed from itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Congenital myopathy v3.91 SELENON Arina Puzriakova Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310
Congenital myopathy v3.90 SELENON Arina Puzriakova Publications for gene: SELENON were set to 26780752; 16365872
Congenital myopathy v3.89 SCN4A Arina Puzriakova Phenotypes for gene: SCN4A were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Congenital myopathy v3.88 RYR3 Arina Puzriakova Phenotypes for gene: RYR3 were changed from childhood-onset nemaline myopathy to Nemaline myopathy, MONDO:0018958
Congenital myopathy v3.87 RYR1 Arina Puzriakova Phenotypes for gene: RYR1 were changed from Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600 to Central core disease, OMIM:117000; Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000; Minicore myopathy with external ophthalmoplegia, OMIM:255320; King-Denborough syndrome, OMIM:619542
Congenital myopathy v3.86 PYROXD1 Arina Puzriakova Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization to Myopathy, myofibrillar, 8, OMIM:617258
Congenital myopathy v3.85 PUS1 Arina Puzriakova Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia to Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462
Congenital myopathy v3.84 PPA2 Arina Puzriakova Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile, 617222 to Sudden cardiac failure, infantile, OMIM:617222
Congenital myopathy v3.83 PNPLA2 Arina Puzriakova Phenotypes for gene: PNPLA2 were changed from Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
Congenital myopathy v3.82 PIEZO2 Arina Puzriakova Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146 to Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146
Congenital myopathy v3.81 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 to Myopathy, congenital, progressive, with scoliosis, OMIM:618578
Congenital myopathy v3.80 ORAI1 Arina Puzriakova Phenotypes for gene: ORAI1 were changed from Myopathy, tubular aggregate, 2 615883 to Myopathy, tubular aggregate, 2, OMIM:615883
Congenital myopathy v3.79 NEFL Arina Puzriakova Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.78 NEB Arina Puzriakova Phenotypes for gene: NEB were changed from nemaline myopathy; Nemaline Myopathy, Recessive; Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, OMIM:256030
Congenital myopathy v3.77 MYPN Arina Puzriakova Phenotypes for gene: MYPN were changed from Congenital cap myopathy; Nemaline myopathy, 617336 to Nemaline myopathy 11, autosomal recessive, OMIM:617336
Congenital myopathy v3.76 MYOT Arina Puzriakova Phenotypes for gene: MYOT were changed from Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Congenital myopathy v3.75 MYO18B Arina Puzriakova Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689 to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
Congenital myopathy v3.74 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700 to Carey-Fineman-Ziter syndrome, OMIM:254940
Congenital myopathy v3.73 MYL2 Arina Puzriakova Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
Congenital myopathy v3.72 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
Congenital myopathy v3.71 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 2B 601680; Arthrogryposis, distal, type 8 178110 to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436
Congenital myopathy v3.70 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 to Proximal myopathy and ophthalmoplegia, OMIM:605637
Congenital myopathy v3.69 MYH14 Arina Puzriakova Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652 to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Congenital myopathy v3.68 MYF6 Arina Puzriakova Phenotypes for gene: MYF6 were changed from Centronuclear Myopathy, Dominant; Myopathy, centronuclear, 3, 614408 to Centronuclear Myopathy, Dominant
Congenital myopathy v3.67 MYBPC3 Arina Puzriakova Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197 to Cardiomyopathy, dilated, 1MM, OMIM:615396; Cardiomyopathy, hypertrophic, 4, OMIM:115197
Congenital myopathy v3.66 MYBPC1 Arina Puzriakova Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915 to Arthrogryposis, distal, type 1B, OMIM:614335; Lethal congenital contracture syndrome 4, OMIM:614915; Myopathy, congenital, with tremor, OMIM:618524
Congenital myopathy v3.65 MTMR14 Arina Puzriakova Phenotypes for gene: MTMR14 were changed from centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150 to {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Congenital myopathy v3.64 MT-TL1 Arina Puzriakova Phenotypes for gene: MT-TL1 were changed from MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000 to MELAS syndrome, MONDO:0010789
Congenital myopathy v3.63 MLIP Arina Puzriakova Phenotypes for gene: MLIP were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138
Congenital myopathy v3.62 MICU1 Arina Puzriakova Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 to Myopathy with extrapyramidal signs, OMIM:615673
Congenital myopathy v3.61 MEGF10 Arina Puzriakova Phenotypes for gene: MEGF10 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399
Congenital myopathy v3.60 MATR3 Arina Puzriakova Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 606070 to Amyotrophic lateral sclerosis 21, OMIM:606070
Congenital myopathy v3.59 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695 to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Congenital myopathy v3.58 LMOD3 Arina Puzriakova Publications for gene: LMOD3 were updated from PMID 25250574 to PMID 25250574
Congenital myopathy v3.57 LMOD3 Arina Puzriakova Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Congenital myopathy v3.56 LGI4 Arina Puzriakova Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Congenital myopathy v3.55 LDB3 Arina Puzriakova Phenotypes for gene: LDB3 were changed from Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452 to Myopathy, myofibrillar, 4, OMIM:609452
Congenital myopathy v3.54 LAMP2 Arina Puzriakova Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease, 300257 to Danon disease, OMIM:300257
Congenital myopathy v3.53 KY Arina Puzriakova Phenotypes for gene: KY were changed from Myopathy, myofibrillar 7 OMIM:617114 to Myopathy, myofibrillar, 7, OMIM:617114
Congenital myopathy v3.52 KLHL41 Arina Puzriakova Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 to Nemaline myopathy 9, OMIM:615731
Congenital myopathy v3.51 KLHL40 Arina Puzriakova Phenotypes for gene: KLHL40 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy 8, autosomal recessive, OMIM:615348
Congenital myopathy v3.50 KBTBD13 Arina Puzriakova Phenotypes for gene: KBTBD13 were changed from Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273 to Nemaline myopathy 6, autosomal dominant, OMIM:609273
Congenital myopathy v3.49 ISCU Arina Puzriakova Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
Congenital myopathy v3.48 HTRA2 Arina Puzriakova Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII 617248 to 3-methylglutaconic aciduria, type VIII, OMIM:617248
Congenital myopathy v3.47 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040 to Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040
Congenital myopathy v3.46 HNRNPA2B1 Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1.
Congenital myopathy v3.46 HNRNPA1 Arina Puzriakova Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Congenital myopathy v3.45 HACD1 Arina Puzriakova Phenotypes for gene: HACD1 were changed from congenital myopathy, MONDO:0019952 to Myopathy, congenital, nonprogressive, OMIM:619967
Congenital myopathy v3.44 GNE Arina Puzriakova Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, OMIM:605820
Congenital myopathy v3.43 GFER Arina Puzriakova Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Congenital myopathy v3.42 FXR1 Arina Puzriakova Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822 to Myopathy, congenital proximal, with minicore lesions, OMIM:618823; Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822
Congenital myopathy v3.41 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289 to Myopathy, distal, 4, OMIM:614065; Myopathy, myofibrillar, 5, OMIM:609524
Congenital myopathy v3.40 FKBP14 Arina Puzriakova Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Congenital myopathy v3.39 FAM111B Arina Puzriakova Phenotypes for gene: FAM111B were changed from Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704
Congenital myopathy v3.38 EPG5 Arina Puzriakova Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vici syndrome, OMIM:242840
Congenital myopathy v3.37 ECEL1 Arina Puzriakova Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D, 615065 to Arthrogryposis, distal, type 5D, OMIM:615065
Congenital myopathy v3.36 DOK7 Arina Puzriakova Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300 to Fetal akinesia deformation sequence 3, OMIM:618389; Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myopathy v3.35 DNM2 Arina Puzriakova Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Centronuclear myopathy 1, OMIM:160150
Congenital myopathy v3.34 DNAJB6 Arina Puzriakova Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511 to Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511
Congenital myopathy v3.33 DHX16 Arina Puzriakova Phenotypes for gene: DHX16 were changed from Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 to Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733
Congenital myopathy v3.32 DES Arina Puzriakova Phenotypes for gene: DES were changed from Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 to Myopathy, myofibrillar, 1, OMIM:601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
Congenital myopathy v3.31 COL6A2 Arina Puzriakova Phenotypes for gene: COL6A2 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Congenital myopathy v3.30 CHCHD10 Arina Puzriakova Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048 to Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911; Spinal muscular atrophy, Jokela type, OMIM:615048
Congenital myopathy v3.29 CFL2 Arina Puzriakova Publications for gene: CFL2 were set to 22560515; 17160903; 24610938
Congenital myopathy v3.28 CFL2 Arina Puzriakova Phenotypes for gene: CFL2 were changed from Nemaline myopathy 7, autosomal recessive, 610687; Nemaline Myopathy, Recessive to Nemaline myopathy 7, autosomal recessive, OMIM:610687
Congenital myopathy v3.27 CCDC78 Arina Puzriakova Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, OMIM:614807
Congenital myopathy v3.26 CAV3 Arina Puzriakova Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321
Congenital myopathy v3.25 CASQ1 Arina Puzriakova Mode of inheritance for gene: CASQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.24 CASQ1 Arina Puzriakova Publications for gene: CASQ1 were set to 25116801
Congenital myopathy v3.23 CASQ1 Arina Puzriakova Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Congenital myopathy v3.22 CACNA1S Arina Puzriakova Phenotypes for gene: CACNA1S were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Congenital myopathy v3.21 BIN1 Arina Puzriakova Publications for gene: BIN1 were set to
Congenital myopathy v3.20 BIN1 Arina Puzriakova Phenotypes for gene: BIN1 were changed from Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200 to Centronuclear myopathy 2, OMIM:255200
Congenital myopathy v3.19 BAG3 Arina Puzriakova Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6, 612954 to Myopathy, myofibrillar, 6, OMIM:612954
Congenital myopathy v3.18 ATP2A1 Arina Puzriakova Phenotypes for gene: ATP2A1 were changed from Brody Myopathy; Brody myopathy, 601003 to Brody myopathy, OMIM:601003
Congenital myopathy v3.17 ASCC3 Arina Puzriakova Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Congenital myopathy v3.16 ADSSL1 Arina Puzriakova Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Congenital myopathy v3.15 ACTN2 Arina Puzriakova Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease; progressive early-onset muscle weakness to Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Congenital myopathy v3.14 CNTN1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: CNTN1.
Congenital myopathy v3.14 CNTN1 Eleanor Williams commented on gene: CNTN1
Congenital myopathy v3.14 TNNC2 Eleanor Williams Tag Q3_21_rating was removed from gene: TNNC2.
Congenital myopathy v3.14 MYOD1 Eleanor Williams Tag Q3_21_rating was removed from gene: MYOD1.
Congenital myopathy v3.14 MYL2 Eleanor Williams Tag Q2_21_rating was removed from gene: MYL2.
Congenital myopathy v3.14 MYH8 Eleanor Williams Tag Q2_21_rating was removed from gene: MYH8.
Tag Q2_21_phenotype was removed from gene: MYH8.
Tag Q2_21_expert_review was removed from gene: MYH8.
Congenital myopathy v3.14 MTM1 Eleanor Williams Tag Q3_22_MOI was removed from gene: MTM1.
Congenital myopathy v3.14 MTM1 Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Congenital myopathy v3.14 HNRNPA2B1 Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1.
Congenital myopathy v3.14 HACD1 Eleanor Williams Tag Q2_21_rating was removed from gene: HACD1.
Congenital myopathy v3.14 COX6A2 Eleanor Williams Tag Q3_22_rating was removed from gene: COX6A2.
Congenital myopathy v3.14 ASCC3 Eleanor Williams Tag Q3_21_rating was removed from gene: ASCC3.
Congenital myopathy v3.14 TNNC2 Eleanor Williams reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYOD1 Eleanor Williams reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYL2 Eleanor Williams reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MYH8 Eleanor Williams reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 MTM1 Eleanor Williams commented on gene: MTM1
Congenital myopathy v3.14 HNRNPA2B1 Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 HACD1 Eleanor Williams reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 COX6A2 Eleanor Williams reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.14 ASCC3 Eleanor Williams reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v3.13 TNNC2 Eleanor Williams Source Expert Review Green was added to TNNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYOD1 Eleanor Williams Source Expert Review Green was added to MYOD1.
Source NHS GMS was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYL2 Eleanor Williams Source Expert Review Green was added to MYL2.
Source NHS GMS was added to MYL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 MYH8 Eleanor Williams Source Expert Review Red was added to MYH8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v3.13 MTM1 Eleanor Williams Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v3.13 HNRNPA2B1 Eleanor Williams Source Expert Review Green was added to HNRNPA2B1.
Source NHS GMS was added to HNRNPA2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 HACD1 Eleanor Williams Source Expert Review Green was added to HACD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 COX6A2 Eleanor Williams Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.13 ASCC3 Eleanor Williams Source Expert Review Green was added to ASCC3.
Source NHS GMS was added to ASCC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v3.12 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v3.12 KY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital myopathy v3.12 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.11 KY Sarah Leigh Tag Q1_23_promote_green tag was added to gene: KY.
Tag Q1_23_NHS_review tag was added to gene: KY.
Congenital myopathy v3.11 FXR1 Arina Puzriakova Publications for gene: FXR1 were set to 30770808
Congenital myopathy v3.10 KY Sarah Leigh commented on gene: KY: Associated with Myopathy, myofibrillar, 7 (OMIM: 617114) in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants have been reported in unrelated cases. PMID: 30591934 demostrates segregation of KY c.415C>T (p.R139*) in the affected homozygous members of a consanguineous family, where the parents are heterozygotes and the unaffected sister is homozygous for the wild type allele. PMID 27485408 describes the spontaneously generated murine ortholog of variant Ky with postnatally developing kyphoscoliosis, the authors note the similarities between the patient and mouse muscle fibres.
Congenital myopathy v3.10 TNNC2 Sarah Leigh reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v3.10 UNC45B Sarah Leigh Tag Q4_22_promote_green tag was added to gene: UNC45B.
Tag Q4_22_expert_review tag was added to gene: UNC45B.
Tag Q4_22_NHS_review tag was added to gene: UNC45B.
Congenital myopathy v3.10 UNC45B Sarah Leigh commented on gene: UNC45B: Associated with relevant Myofibrillar myopathy 11 in OMIM and as strong Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 7 variants have been reported in at least 10 unrelated families. SEgregation has been observed and functional studies suggest that reduced expression of UNC45B is associated with Myofibrillar myopathy 11. This review represents further information from subsequent case reports and the update of OMIM to allow OMIM asign a phenotype tp this gene.
Congenital myopathy v3.10 UNC45B Sarah Leigh Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Myofibrillar myopathy 11, OMIM:619178; myofibrillar myopathy 11, MONDO:0030927
Congenital myopathy v3.9 UNC45B Sarah Leigh Publications for gene: UNC45B were set to 33217308
Congenital myopathy v3.8 MLIP Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; MIM# 620138 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Congenital myopathy v3.7 MLIP Achchuthan Shanmugasundram edited their review of gene: MLIP: Changed phenotypes to: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Congenital myopathy v3.7 MLIP Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: MLIP.
Congenital myopathy v3.7 MLIP Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; MIM# 620138
Congenital myopathy v3.6 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254; 35672413; 35915960; 35942668
Congenital myopathy v3.6 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254; 35672413; 35915960; 35942668
Congenital myopathy v3.6 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254; 35672413; 35915960; 35942668
Congenital myopathy v3.5 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254; 35672413; 35915960; 35942668
Congenital myopathy v3.5 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254; 35672413; 35915960; 35942668
Congenital myopathy v3.5 MLIP Achchuthan Shanmugasundram Publications for gene: MLIP were set to 34581780
Congenital myopathy v3.4 MLIP Achchuthan Shanmugasundram Classified gene: MLIP as Amber List (moderate evidence)
Congenital myopathy v3.4 MLIP Achchuthan Shanmugasundram Gene: mlip has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.3 MLIP Achchuthan Shanmugasundram Classified gene: MLIP as Amber List (moderate evidence)
Congenital myopathy v3.3 MLIP Achchuthan Shanmugasundram Gene: mlip has been classified as Amber List (Moderate Evidence).
Congenital myopathy v3.2 MLIP Achchuthan Shanmugasundram reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26436652, 32719146, 33802236, 34581780, 34935254, 35672413, 35915960, 35942668; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_MOI tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_expert_review tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber tag was added to gene: CCDC78.
Congenital myopathy v3.2 CCDC78 Achchuthan Shanmugasundram Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v3.1 CCDC78 Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856, 25635128; Phenotypes: centronuclear myopathy-4, MIM# 614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital myopathy v3.0 Catherine Snow promoted panel to version 3.0
Congenital myopathy v2.93 KY Anna Sarkozy edited their review of gene: KY: Added comment: Two brothers reported with homozygous c405 C > A (pY135*) nonsense mutation in the KY (Kyphoscoliosis peptidase) gene encoding the KY protein. the phenotype is myopathic, with prenatal onset, progressive muscle weakness and atrophy in limbs, face and tongue, contractures and rigid spine. CK is elevated. Muscle biopsy showed Cores and absence of the mutant protein.; Changed mode of pathogenicity: Other
Congenital myopathy v2.93 TNNC2 Anna Sarkozy reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.93 UNC45B Anna Sarkozy reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33217308, 31852522, 35292251; Phenotypes: congenital myopathy, progressive myopathy with eccentric cores, core myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.93 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018 to Laing distal myopathy, OMIM:160500; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal recessive, OMIM:255160
Congenital myopathy v2.92 MYH7 Arina Puzriakova Publications for gene: MYH7 were set to 15322983
Congenital myopathy v2.91 MYH7 Arina Puzriakova Added comment: Comment on mode of inheritance: There are now at least four families in literature with recessive variants and myopathy (PMIDs: 14659406; 25666907; 17372140; 31130376). Congenital manifestation in some cases. Therefore, the MOI can now be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.
Congenital myopathy v2.91 MYH7 Arina Puzriakova Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v2.90 MYH7 Arina Puzriakova Tag Q4_22_MOI tag was added to gene: MYH7.
Congenital myopathy v2.90 CCDC78 Tracy Lester reviewed gene: CCDC78: Rating: RED; Mode of pathogenicity: None; Publications: 25635128; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.90 MYH8 Eleanor Williams Tag Q2_21_rating tag was added to gene: MYH8.
Tag Q2_21_expert_review tag was added to gene: MYH8.
Congenital myopathy v2.90 COX6A2 Arina Puzriakova Entity copied from Mitochondrial disorders v2.122
Congenital myopathy v2.90 COX6A2 Arina Puzriakova gene: COX6A2 was added
gene: COX6A2 was added to Congenital myopathy. Sources: Expert Review Amber,NHS GMS
Q3_22_rating tags were added to gene: COX6A2.
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 23460811; 31155743; 32744742
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Congenital myopathy v2.89 LMNA Arina Puzriakova commented on gene: LMNA: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Congenital myopathy v2.88 CASQ1 Arina Puzriakova commented on gene: CASQ1
Congenital myopathy v2.87 CASQ1 Arina Puzriakova Source Expert Review Red was added to CASQ1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v2.86 HACD1 Sarah Leigh reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.86 MTM1 Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported in literature (PMID: 10323249; 11552027; 12707446; 15883335) as well as by review of Helen Brittain (Genomics England Clinical Team) providing details of a case identified in clinic - “Participant (female singleton) has a phenotype of distal myopathies with facial hypotonia, limb weakness, progressive weakness and abnormality of muscle morphology among the HPO terms".

MOI should therefore be updated form XLR to XLD at the next GMS review.
Congenital myopathy v2.86 MTM1 Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v2.85 MTM1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1.
Congenital myopathy v2.85 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myopathy, centronuclear, X-linked 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Congenital myopathy v2.84 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy; Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked 310400
Congenital myopathy v2.83 HACD1 Tracy Lester reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512, 33354762; Phenotypes: Hypotonia, muscle weakness, motor delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.83 ADSSL1 Arina Puzriakova commented on gene: ADSSL1
Congenital myopathy v2.83 ADSSL1 Arina Puzriakova Tag new-gene-name tag was added to gene: ADSSL1.
Congenital myopathy v2.83 RYR3 Eleanor Williams Tag gene-checked tag was added to gene: RYR3.
Congenital myopathy v2.83 UNC45B Sarah Leigh commented on gene: UNC45B: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.83 UNC45B Sarah Leigh Deleted their comment
Congenital myopathy v2.83 UNC45B Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: UNC45B.
Congenital myopathy v2.83 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.83 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.82 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.82 KY Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: KY.
Congenital myopathy v2.82 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.82 KY Sarah Leigh Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.82 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.81 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.81 GFER Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: GFER.
Congenital myopathy v2.81 GFER Sarah Leigh Classified gene: GFER as Amber List (moderate evidence)
Congenital myopathy v2.81 GFER Sarah Leigh Gene: gfer has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.80 GFER Sarah Leigh reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.80 GFER Sarah Leigh Deleted their review
Congenital myopathy v2.80 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Congenital myopathy v2.80 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Congenital myopathy v2.80 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Congenital myopathy v2.80 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Congenital myopathy v2.80 ISCA-37408-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Congenital myopathy v2.80 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Congenital myopathy v2.79 GFER Sarah Leigh changed review comment from: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital myopathy v2.79 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital myopathy v2.79 AR_CAG Ivone Leong commented on STR: AR_CAG
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v2.75 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v2.75 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v2.74 GFER Ivone Leong Tag for-review was removed from gene: GFER.
Congenital myopathy v2.74 KY Ivone Leong Tag watchlist was removed from gene: KY.
Tag for-review was removed from gene: KY.
Congenital myopathy v2.74 UNC45B Ivone Leong Tag for-review was removed from gene: UNC45B.
Congenital myopathy v2.74 MYH2 Ivone Leong Tag for-review was removed from gene: MYH2.
Congenital myopathy v2.74 MYH2 Sarah Leigh reviewed gene: MYH2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.74 UNC45B Sarah Leigh commented on gene: UNC45B: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.74 KY Sarah Leigh commented on gene: KY: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Congenital myopathy v2.74 GFER Sarah Leigh commented on gene: GFER
Congenital myopathy v2.73 MYH2 Ivone Leong Source Expert list was added to MYH2.
Mode of inheritance for gene MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.73 UNC45B Ivone Leong Source Expert Review Green was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.73 KY Ivone Leong Source Expert Review Green was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.73 GFER Ivone Leong Source Expert Review Green was added to GFER.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v2.72 LMNA Arina Puzriakova commented on gene: LMNA
Congenital myopathy v2.71 LMNA Arina Puzriakova Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.70 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Congenital myopathy v2.69 RBCK1 Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Congenital myopathy v2.68 MLIP Zornitza Stark gene: MLIP was added
gene: MLIP was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLIP were set to 34581780
Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Congenital myopathy v2.68 ACTN2 Dmitrijs Rots reviewed gene: ACTN2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34471957; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v2.68 AR_CAG Arina Puzriakova Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Congenital myopathy v2.67 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital myopathy v2.66 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital myopathy v2.65 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Congenital myopathy v2.65 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Congenital myopathy v2.64 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Congenital myopathy v2.63 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:61386
Congenital myopathy v2.62 COL9A3 Arina Puzriakova Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Congenital myopathy v2.61 COL6A3 Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Congenital myopathy v2.60 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Congenital myopathy v2.59 MYO18B Arina Puzriakova Publications for gene: MYO18B were set to 27879346; 27858739; 25748484; 32637634
Congenital myopathy v2.59 MYO18B Arina Puzriakova Publications for gene: MYO18B were set to 27879346; 27858739; 25748484
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CNTN1.
Congenital myopathy v2.58 CNTN1 Arina Puzriakova Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v2.57 CNTN1 Arina Puzriakova Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to Myopathy, congenital, Compton-North, OMIM:612540
Congenital myopathy v2.56 CNTN1 Rhiannon Mellis reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32779773; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.56 SPTBN4 Zornitza Stark reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33772159, 29861105; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.56 MYOD1 Ivone Leong commented on gene: MYOD1: Affected individuals present with hypotonia and respiratory insufficiency. More severe cases develop features in utero and lead to contractures.
Congenital myopathy v2.56 MYF5 Ivone Leong reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29887215; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.56 ASCC3 Ivone Leong Classified gene: ASCC3 as Amber List (moderate evidence)
Congenital myopathy v2.56 ASCC3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible gene-disease association) but not OMIM. There is enough evidence for this gene to be Green.
Congenital myopathy v2.56 ASCC3 Ivone Leong Gene: ascc3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.55 ASCC3 Ivone Leong Tag Q3_21_rating tag was added to gene: ASCC3.
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 v2.51 TNNC2 Ivone Leong Tag Q3_21_rating tag was added to gene: TNNC2.
Congenital myopathy v2.51 TNNC2 Ivone Leong Classified gene: TNNC2 as Amber List (moderate evidence)
Congenital myopathy v2.51 TNNC2 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is currently 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.
Congenital myopathy v2.51 TNNC2 Ivone Leong Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.50 TNNC2 Ivone Leong Phenotypes for gene: TNNC2 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Congenital myopathy v2.49 TNNC2 Ivone Leong Added comment: Comment on publications: PMID:26924529 was incorrectly entered for TNNC2
Congenital myopathy v2.49 TNNC2 Ivone Leong Publications for gene: TNNC2 were set to 26924529
Congenital myopathy v2.48 TPM2 Ivone Leong Publications for gene: TPM2 were set to 12592607; 11738357; 17434307; 24692096
Congenital myopathy v2.47 ASCC3 Ivone Leong Phenotypes for gene: ASCC3 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Congenital myopathy v2.46 MYOD1 Ivone Leong Tag Q3_21_rating tag was added to gene: MYOD1.
Congenital myopathy v2.46 MYOD1 Ivone Leong Classified gene: MYOD1 as Amber List (moderate evidence)
Congenital myopathy v2.46 MYOD1 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 but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Congenital myopathy v2.46 MYOD1 Ivone Leong Gene: myod1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.45 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3 to Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Congenital myopathy v2.44 MYOD1 Ivone Leong Phenotypes for gene: MYOD1 were changed from Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975 to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Congenital myopathy v2.43 HACD1 Ivone Leong Tag watchlist was removed from gene: HACD1.
Tag Q2_21_rating tag was added to gene: HACD1.
Congenital myopathy v2.43 HACD1 Ivone Leong edited their review of gene: HACD1: Added comment: This gene is associated with a relevant phenotype in Gene2Phenotype and not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: GREEN
Congenital myopathy v2.43 HACD1 Ivone Leong Phenotypes for gene: HACD1 were changed from congenital myopathy to congenital myopathy, MONDO:0019952
Congenital myopathy v2.42 HACD1 Ivone Leong Added comment: Comment on publications: PMID: 33354762. Three additional cases.
Congenital myopathy v2.42 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735; 15829503; 32426512; 33354762
Congenital myopathy v2.41 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735; 15829503; 32426512
Congenital myopathy v2.40 HACD1 Ivone Leong Publications for gene: HACD1 were set to 23933735
Congenital myopathy v2.39 SLC25A42 Ivone Leong Tag watchlist tag was added to gene: SLC25A42.
Congenital myopathy v2.39 SLC25A42 Ivone Leong Classified gene: SLC25A42 as Amber List (moderate evidence)
Congenital myopathy v2.39 SLC25A42 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. Currently there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Congenital myopathy v2.39 SLC25A42 Ivone Leong Gene: slc25a42 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.38 SLC25A42 Ivone Leong Phenotypes for gene: SLC25A42 were changed from muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
Congenital myopathy v2.37 SLC25A42 Ivone Leong Publications for gene: SLC25A42 were set to 26541337
Congenital myopathy v2.36 ACTN2 Ivone Leong Publications for gene: ACTN2 were set to 24692096; 30701273
Congenital myopathy v2.35 MYH8 Ivone Leong Tag Q2_21_phenotype tag was added to gene: MYH8.
Congenital myopathy v2.35 MYH8 Ivone Leong reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.35 MYH8 Ivone Leong Publications for gene: MYH8 were set to 17041932
Congenital myopathy v2.34 MYH8 Ivone Leong Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome, 158300 to Trismus-pseudocamptodactyly syndrome, OMIM:158300
Congenital myopathy v2.33 MYL2 Ivone Leong Classified gene: MYL2 as Amber List (moderate evidence)
Congenital myopathy v2.33 MYL2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a variant 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.
Congenital myopathy v2.33 MYL2 Ivone Leong Gene: myl2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.32 MYL2 Ivone Leong Tag Q2_21_rating tag was added to gene: MYL2.
Congenital myopathy v2.32 MYL2 Ivone Leong Added comment: Comment on publications: PMID:33731536 third case from Japan
Congenital myopathy v2.32 MYL2 Ivone Leong Publications for gene: MYL2 were set to 23365102; 27378946; 33731536
Congenital myopathy v2.31 MYL2 Ivone Leong Publications for gene: MYL2 were set to 23365102; 27378946
Congenital myopathy v2.30 MYL2 Ivone Leong Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758
Congenital myopathy v2.29 MYF5 Ivone Leong Phenotypes for gene: MYF5 were changed from OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Congenital myopathy v2.28 TNNC2 Dmitrijs Rots reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33755597; Phenotypes: Myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v2.28 ASCC3 Zornitza Stark gene: ASCC3 was added
gene: ASCC3 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Congenital myopathy v2.28 MYO18B Arina Puzriakova Phenotypes for gene: MYO18B were changed from KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
Congenital myopathy v2.27 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Congenital myopathy v2.26 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Congenital myopathy v2.25 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to
Congenital myopathy v2.24 MYH2 Arina Puzriakova Tag for-review tag was added to gene: MYH2.
Congenital myopathy v2.24 MYH2 Arina Puzriakova Added comment: Comment on mode of inheritance: Multiple independent reports of both biallelic (PMIDs: 15548556; 23388406; 20418530; 24193343) and monoallelic cases (PMIDs: 11114175; 23489661). MOI should therefore be changed from 'Monoallelic' to 'Both monoallelic and biallelic' at the next GMS panel update (added 'for-review' tag)
Congenital myopathy v2.24 MYH2 Arina Puzriakova Mode of inheritance for gene: MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v2.23 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia 605637 to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Congenital myopathy v2.22 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from congenital myopathy with fibre type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
Congenital myopathy v2.21 HNRNPA2B1 Sarah Leigh changed review comment from: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time.; to: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time.

There is enough evidence for this gene to be green, but GMS opinion is required to confirm this.
Congenital myopathy v2.21 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Congenital myopathy v2.20 GFER Ivone Leong Tag for-review tag was added to gene: GFER.
Congenital myopathy v2.20 UNC45B Sarah Leigh edited their review of gene: UNC45B: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Congenital myopathy v2.20 UNC45B Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have beeb notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.; to: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have been notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.
Congenital myopathy v2.20 UNC45B Sarah Leigh Added comment: Comment on phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores (Gen2Phen)(https://www.ebi.ac.uk/gene2phenotype/gfd?search_type=gfd&dbID=4636). OMIM, MONDO and Orphanet have yet to list this phenotype (20210119)
Congenital myopathy v2.20 UNC45B Sarah Leigh Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Progressive Myopathy with Eccentric Cores
Congenital myopathy v2.19 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.19 UNC45B Sarah Leigh Added comment: Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have beeb notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.
Congenital myopathy v2.19 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.18 UNC45B Sarah Leigh Tag for-review tag was added to gene: UNC45B.
Congenital myopathy v2.18 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.18 KY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital myopathy v2.18 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.17 KY Sarah Leigh Tag for-review tag was added to gene: KY.
Congenital myopathy v2.17 KY Sarah Leigh reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.17 KY Sarah Leigh Phenotypes for gene: KY were changed from congenital myopathy to Myopathy, myofibrillar 7 OMIM:617114
Congenital myopathy v2.16 KY Sarah Leigh Publications for gene: KY were set to 27484770
Congenital myopathy v2.15 HNRNPA2B1 Sarah Leigh Tag watchlist tag was added to gene: HNRNPA2B1.
Tag for-review tag was added to gene: HNRNPA2B1.
Congenital myopathy v2.15 HNRNPA2B1 Sarah Leigh Publications for gene: HNRNPA2B1 were set to
Congenital myopathy v2.14 HNRNPA2B1 Sarah Leigh Mode of inheritance for gene: HNRNPA2B1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.13 HNRNPA2B1 Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Congenital myopathy v2.13 HNRNPA2B1 Sarah Leigh Added comment: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time.
Congenital myopathy v2.13 HNRNPA2B1 Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.12 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Congenital myopathy v2.11 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from severe congenital myopathy with congenital bone fractures, 616866; Spinal muscular atrophy with congenital bone fractures 1, 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Congenital myopathy v2.10 GFER Ivone Leong Classified gene: GFER as Amber List (moderate evidence)
Congenital myopathy v2.10 GFER Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be considered Green at the next review. This gene has been promoted to Amber and tagged with "for-review".
Congenital myopathy v2.10 GFER Ivone Leong Gene: gfer has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.9 GFER Ivone Leong Publications for gene: GFER were set to 19409522
Congenital myopathy v2.8 UNC45B Zornitza Stark gene: UNC45B was added
gene: UNC45B was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45B were set to 33217308
Phenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores
Review for gene: UNC45B was set to GREEN
Added comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: Literature
Congenital myopathy v2.8 HNRNPA2B1 Anna Sarkozy reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.8 HNRNPA2B1 Anna Sarkozy Deleted their review
Congenital myopathy v2.8 HNRNPA2B1 Anna Sarkozy gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Congenital myopathy. Sources: Expert list,Literature
Mode of inheritance for gene: HNRNPA2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HNRNPA2B1 were set to oculopharyngodistal myopathy; muscular dystrophy; congenital myopathy
Review for gene: HNRNPA2B1 was set to GREEN
Added comment: variants in this gene have now been reported in several unrelated families
this was presented at the world muscle society conference in 2020 and it is currently submitted for full publication
https://doi.org/10.1016/j.nmd.2020.08.006
Sources: Expert list, Literature
Congenital myopathy v2.8 KY Anna Sarkozy edited their review of gene: KY: Added comment: recent reports at the WMS 2020 reported unrelated family with KY gene variants.
"Novel mutation in KY gene causes a novel congenital myopathy with early contractures" see
https://www.nmd-journal.com/article/S0960-8966(20)30298-4/fulltext; Changed rating: GREEN; Changed phenotypes: congenital myopathy
Congenital myopathy v2.8 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing Distal Myopathy 160500 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Congenital myopathy v2.7 TNNT1 Arina Puzriakova reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32994279; Phenotypes: Nemaline myopathy 5, Amish type, 605355, Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.7 SVIL Sarah Leigh Tag watchlist tag was added to gene: SVIL.
Congenital myopathy v2.7 SVIL Sarah Leigh Classified gene: SVIL as Amber List (moderate evidence)
Congenital myopathy v2.7 SVIL Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least two terminating variants reported in two unrelated, consanguineous families with a childhood/adolescence onset myopathy (PMID 32779703).
Congenital myopathy v2.7 SVIL Sarah Leigh Gene: svil has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.6 DHX16 Sarah Leigh Classified gene: DHX16 as Amber List (moderate evidence)
Congenital myopathy v2.6 DHX16 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Intellectual Disability, Central Nervous System anomalies and Seizures. At least 4 variants reported as de novo heterozygous variants in 4 unrelated probands as a result of trio exome sequencing. No functional studies were reported.
Congenital myopathy v2.6 DHX16 Sarah Leigh Gene: dhx16 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.5 SVIL Zornitza Stark gene: SVIL was added
gene: SVIL was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to Myopathy
Review for gene: SVIL was set to AMBER
Added comment: Four individuals from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.
Sources: Literature
Congenital myopathy v2.5 DHX16 Zornitza Stark gene: DHX16 was added
gene: DHX16 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX16 were set to 31256877
Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733
Review for gene: DHX16 was set to AMBER
gene: DHX16 was marked as current diagnostic
Added comment: This gene is somewhat difficult to place on the right panels.

Overall, there are four unrelated individuals reported with de novo missense variants. Three of the individuals died in infancy, so phenotypic information is limited, though hypotonia was prominent. Two had seizures. Individual with long-term survival had a progressive course, evidence of neuropathy, myopathy, loss of hearing and vision, and normal IQ.
Sources: Literature
Congenital myopathy v2.5 MYOD1 Zornitza Stark gene: MYOD1 was added
gene: MYOD1 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Review for gene: MYOD1 was set to GREEN
gene: MYOD1 was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Literature
Congenital myopathy v2.5 CFL2 Arina Puzriakova reviewed gene: CFL2: Rating: ; Mode of pathogenicity: None; Publications: 32160286; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.5 HACD1 Zornitza Stark reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512; Phenotypes: Congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.5 TNNI2 Zornitza Stark reviewed gene: TNNI2: Rating: RED; Mode of pathogenicity: None; Publications: 16924011; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: AMBER; Mode of pathogenicity: None; Publications: 26541337, 29923093, 29327420; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MIM#618416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.5 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: 30258016, 25116801, 26136523; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 CHCHD10 Zornitza Stark Deleted their review
Congenital myopathy v2.5 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856, 25193783; Phenotypes: Congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 CCDC78 Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 ECEL1 Zornitza Stark reviewed gene: ECEL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.5 ADSSL1 Zornitza Stark changed review comment from: Onset is specifically in adolescence so not appropriate for congenital panel.; to: Onset is in late childhood/adolescence so not appropriate for congenital panel.
Congenital myopathy v2.5 ADSSL1 Zornitza Stark edited their review of gene: ADSSL1: Changed publications: 26506222, 32331917
Congenital myopathy v2.5 ADSSL1 Zornitza Stark reviewed gene: ADSSL1: Rating: RED; Mode of pathogenicity: None; Publications: 26506222; Phenotypes: Myopathy, distal, 5, MIM# 617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.5 ACTN2 Zornitza Stark reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30701273, 30900782; Phenotypes: Myopathy, congenital with structured cores and Z-line abnormalities 618654, Myopathy, distal, 6, adult onset 618655; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, MIM#613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v2.5 KY Zornitza Stark reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: None; Publications: 11136708, 27485408, 27484770, 30591934; Phenotypes: Myopathy, myofibrillar, 7, MIM#617114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v2.5 MYL2 Zornitza Stark gene: MYL2 was added
gene: MYL2 was added to Congenital myopathy. Sources: Expert list
Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL2 were set to 23365102; 27378946
Phenotypes for gene: MYL2 were set to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy
Review for gene: MYL2 was set to AMBER
Added comment: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants.
Sources: Expert list
Congenital myopathy v2.5 MYH8 Zornitza Stark reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: 22918376, 17434305; Phenotypes: Trismus-pseudocamptodactyly syndrome MIM#158300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v2.5 MYF5 Zornitza Stark reviewed gene: MYF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies 618155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.5 FXR1 Eleanor Williams Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822
Congenital myopathy v2.3 Catherine Snow Panel version has been signed off
Congenital myopathy v2.2 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy v2.0 MYPN Louise Daugherty Tag watchlist was removed from gene: MYPN.
Congenital myopathy v2.0 MYPN Louise Daugherty commented on gene: MYPN: As a result of watchlist tag audit the watchlist tag was removed from MYPN- this is now a green gene.
Congenital myopathy v2.0 CCDC78 Louise Daugherty Tag watchlist was removed from gene: CCDC78.
Congenital myopathy v2.0 CCDC78 Louise Daugherty commented on gene: CCDC78: As a result of watchlist tag audit the watchlist tag was removed from CCDC78- this is now a green gene.
Congenital myopathy v2.0 Louise Daugherty promoted panel to version 2.0
Congenital myopathy v1.235 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy v1.234 ADSSL1 Louise Daugherty Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030
Congenital myopathy v1.233 DOK7 Louise Daugherty Classified gene: DOK7 as Green List (high evidence)
Congenital myopathy v1.233 DOK7 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Red to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 -some patients have a muscle biopsy and some minicores
Congenital myopathy v1.233 DOK7 Louise Daugherty Gene: dok7 has been classified as Green List (High Evidence).
Congenital myopathy v1.232 DOK7 Louise Daugherty edited their review of gene: DOK7: Changed rating: GREEN
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Green List (high evidence)
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Added comment: Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.231 ADSSL1 Louise Daugherty Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Green List (high evidence)
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Green List (High Evidence).
Congenital myopathy v1.229 PYROXD1 Louise Daugherty Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization
Congenital myopathy v1.228 MYF5 Louise Daugherty Classified gene: MYF5 as Amber List (moderate evidence)
Congenital myopathy v1.228 MYF5 Louise Daugherty Added comment: Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital)
Congenital myopathy v1.228 MYF5 Louise Daugherty Gene: myf5 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.227 MYF5 Louise Daugherty Publications for gene: MYF5 were set to PMID: 29887215
Congenital myopathy v1.226 FXR1 Louise Daugherty Classified gene: FXR1 as Green List (high evidence)
Congenital myopathy v1.226 FXR1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.226 FXR1 Louise Daugherty Gene: fxr1 has been classified as Green List (High Evidence).
Congenital myopathy v1.225 RYR3 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81; to: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Classified gene: RYR3 as Green List (high evidence)
Congenital myopathy v1.225 RYR3 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Gene: ryr3 has been classified as Green List (High Evidence).
Congenital myopathy v1.224 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Classified gene: CCDC78 as Green List (high evidence)
Congenital myopathy v1.224 CCDC78 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Gene: ccdc78 has been classified as Green List (High Evidence).
Congenital myopathy v1.223 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Changed rating: GREEN
Congenital myopathy v1.223 CCDC78 Anna Sarkozy changed review comment from: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; to: this can be upgraded to green
Congenital myopathy v1.223 RYR3 Anna Sarkozy reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.223 FXR1 Anna Sarkozy reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30770808; Phenotypes: congenital multi-minicore myopathy.; Mode of inheritance: None
Congenital myopathy v1.223 MYF5 Anna Sarkozy gene: MYF5 was added
gene: MYF5 was added to Congenital myopathy. Sources: Expert list,Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Mode of pathogenicity for gene: MYF5 was set to Other
Review for gene: MYF5 was set to AMBER
Added comment: Sources: Expert list, Literature
Congenital myopathy v1.223 PYROXD1 Anna Sarkozy reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27745833; Phenotypes: early-onset myopathy with internalized nuclei and myofibrillar disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.223 ADSSL1 Anna Sarkozy gene: ADSSL1 was added
gene: ADSSL1 was added to Congenital myopathy. Sources: Literature,Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5
Penetrance for gene: ADSSL1 were set to unknown
Mode of pathogenicity for gene: ADSSL1 was set to Other
Review for gene: ADSSL1 was set to GREEN
Added comment: Patient muscle samples showed decreased expression of the mutant missense protein and no expression of the truncated protein, which was attributed to increased degradation of the mutant proteins. In vitro studies in cultured mouse muscle cells and zebrafish indicated that the mutations resulted in a loss of function
Sources: Literature, Expert Review
Congenital myopathy v1.223 DOK7 Anna Sarkozy edited their review of gene: DOK7: Added comment: clinical and pathological overlap with CM, minicores on pathology; Changed rating: GREEN
Congenital myopathy v1.223 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital myopathy v1.222 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Publications for gene HTRA2 were changed from 27208207; 27696117 to 27208207; 27696117
Congenital myopathy v1.221 LGI4 Louise Daugherty Source NHS GMS was added to LGI4.
Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY
Congenital myopathy v1.220 PAX7 Louise Daugherty Source NHS GMS was added to PAX7.
Congenital myopathy v1.219 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital myopathy v1.218 LMNA Louise Daugherty Source UCL was removed from LMNA.
Source NHS GMS was added to LMNA.
Phenotypes for gene: LMNA were changed from Congenital fiber type disproportion myopathy to Congenital fiber type disproportion myopathy
Congenital myopathy v1.217 RYR3 Louise Daugherty Classified gene: RYR3 as Amber List (moderate evidence)
Congenital myopathy v1.217 RYR3 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.217 RYR3 Louise Daugherty Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.216 RYR3 Louise Daugherty gene: RYR3 was added
gene: RYR3 was added to Congenital myopathy. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR3 were set to 29498452
Phenotypes for gene: RYR3 were set to childhood-onset nemaline myopathy
Review for gene: RYR3 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7.
Sources: Expert Review, NHS GMS
Congenital myopathy v1.215 PPA2 Louise Daugherty Source NHS GMS was added to PPA2.
Congenital myopathy v1.214 TRDN Louise Daugherty Source NHS GMS was added to TRDN.
Congenital myopathy v1.213 FLNC Louise Daugherty Source Expert Review was added to FLNC.
Source NHS GMS was added to FLNC.
Congenital myopathy v1.212 PPA2 Louise Daugherty Classified gene: PPA2 as Amber List (moderate evidence)
Congenital myopathy v1.212 PPA2 Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.212 PPA2 Louise Daugherty Gene: ppa2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.211 PPA2 Louise Daugherty gene: PPA2 was added
gene: PPA2 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222
Review for gene: PPA2 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive variants are associated with sudden cardiac death in infants and young adults. Skeletal muscle from one mildly myopathic infant displayed nemaline bodies Guimier A, Gordon CT, Godard F, et al. : Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 2016;99(3):666–73. and
Kennedy H, Haack TB, Hartill V, et al. : Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016;99(3):674–82.
Sources: Expert Review
Congenital myopathy v1.210 TRDN Louise Daugherty Classified gene: TRDN as Amber List (moderate evidence)
Congenital myopathy v1.210 TRDN Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Congenital myopathy v1.210 TRDN Louise Daugherty Gene: trdn has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.209 TRDN Louise Daugherty gene: TRDN was added
gene: TRDN was added to Congenital myopathy. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 25922419; 28202702
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
Review for gene: TRDN was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive frameshift mutations, leading to loss of TRDN, were found to cause a skeletal myopathy in a subset of patients with triadin knockout syndrome.
Altmann HM, Tester DJ, Will ML, et al. : Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015;131(23):2051–60. 10.1161/CIRCULATIONAHA.115.015397
Engel AG, Redhage KR, Tester DJ, et al. : Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017;88(12):1153–6.
Sources: Expert list
Congenital myopathy v1.208 FLNC Louise Daugherty Classified gene: FLNC as Amber List (moderate evidence)
Congenital myopathy v1.208 FLNC Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559
Congenital myopathy v1.208 FLNC Louise Daugherty Gene: flnc has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.207 FLNC Louise Daugherty Publications for gene: FLNC were set to
Congenital myopathy v1.206 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy
Congenital myopathy v1.205 FLNC Louise Daugherty Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.204 FHL1 Louise Daugherty Classified gene: FHL1 as Red List (low evidence)
Congenital myopathy v1.204 FHL1 Louise Daugherty Added comment: Comment on list classification: changed from Green to Red- it was felt this gene was better placed on the CMD panel, R79
Congenital myopathy v1.204 FHL1 Louise Daugherty Gene: fhl1 has been classified as Red List (Low Evidence).
Congenital myopathy v1.203 VPS33B Louise Daugherty Classified gene: VPS33B as Red List (low evidence)
Congenital myopathy v1.203 VPS33B Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- do NOT cause neuromuscular forms of arthrgrogryposis
Congenital myopathy v1.203 VPS33B Louise Daugherty Gene: vps33b has been classified as Red List (Low Evidence).
Congenital myopathy v1.202 FHL1 Louise Daugherty changed review comment from: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off; to: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital myopathy v1.202 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital myopathy v1.202 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.202 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.201 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital myopathy. Sources: Expert Review
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)
Phenotypes for gene: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Congenital myopathy v1.200 HTRA2 Louise Daugherty Classified gene: HTRA2 as Red List (low evidence)
Congenital myopathy v1.200 HTRA2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off - does not cause a form of CM
Congenital myopathy v1.200 HTRA2 Louise Daugherty Gene: htra2 has been classified as Red List (Low Evidence).
Congenital myopathy v1.199 LGI4 Louise Daugherty Classified gene: LGI4 as Red List (low evidence)
Congenital myopathy v1.199 LGI4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off, gene not for CMY
Congenital myopathy v1.199 LGI4 Louise Daugherty Gene: lgi4 has been classified as Red List (Low Evidence).
Congenital myopathy v1.198 CCDC78 Louise Daugherty commented on gene: CCDC78: Remain Amber unless further evidence supplied by GLH
Congenital myopathy v1.198 DOK7 Louise Daugherty edited their review of gene: DOK7: Added comment: Updated review from Anna Sarkozy as a result of GLH Test Group prior to sign off this is not a CMY gene - rate red; Changed rating: RED
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Red List (low evidence)
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off
Congenital myopathy v1.198 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Red List (Low Evidence).
Congenital myopathy v1.197 FXR1 Louise Daugherty Classified gene: FXR1 as Amber List (moderate evidence)
Congenital myopathy v1.197 FXR1 Louise Daugherty Gene: fxr1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Amber List (moderate evidence)
Congenital myopathy v1.196 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.195 FXR1 Louise Daugherty gene: FXR1 was added
gene: FXR1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808
Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy
Review for gene: FXR1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Congenital myopathy v1.193 PYROXD1 Louise Daugherty gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833; 31455395
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; myopathy
Review for gene: PYROXD1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Congenital myopathy v1.192 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Congenital myopathy v1.191 VPS33B Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Amber to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 ECEL1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 MYBPC1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 PIEZO2 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 TNNT3 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.; to: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 TNNT3 Louise Daugherty Classified gene: TNNT3 as Green List (high evidence)
Congenital myopathy v1.191 TNNT3 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.191 TNNT3 Louise Daugherty Gene: tnnt3 has been classified as Green List (High Evidence).
Congenital myopathy v1.190 VPS33B Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.; to: Comment on list classification: Changed from Amber to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.190 VPS33B Louise Daugherty Classified gene: VPS33B as Green List (high evidence)
Congenital myopathy v1.190 VPS33B Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.190 VPS33B Louise Daugherty Gene: vps33b has been classified as Green List (High Evidence).
Congenital myopathy v1.189 VPS33B Louise Daugherty Publications for gene: VPS33B were set to
Congenital myopathy v1.188 VPS33B Louise Daugherty Mode of inheritance for gene: VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.187 TNNI2 Louise Daugherty Classified gene: TNNI2 as Green List (high evidence)
Congenital myopathy v1.187 TNNI2 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.187 TNNI2 Louise Daugherty Gene: tnni2 has been classified as Green List (High Evidence).
Congenital myopathy v1.186 PIEZO2 Louise Daugherty Classified gene: PIEZO2 as Green List (high evidence)
Congenital myopathy v1.186 PIEZO2 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.186 PIEZO2 Louise Daugherty Gene: piezo2 has been classified as Green List (High Evidence).
Congenital myopathy v1.185 MYBPC1 Louise Daugherty Classified gene: MYBPC1 as Green List (high evidence)
Congenital myopathy v1.185 MYBPC1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.185 MYBPC1 Louise Daugherty Gene: mybpc1 has been classified as Green List (High Evidence).
Congenital myopathy v1.184 ECEL1 Louise Daugherty Classified gene: ECEL1 as Green List (high evidence)
Congenital myopathy v1.184 ECEL1 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Congenital myopathy v1.184 ECEL1 Louise Daugherty Gene: ecel1 has been classified as Green List (High Evidence).
Congenital myopathy v1.183 ZC4H2 Louise Daugherty Added comment: Comment on mode of inheritance: MOI changed to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' as some female carriers also show signs of disease.
Congenital myopathy v1.183 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital myopathy v1.182 ZC4H2 Louise Daugherty edited their review of gene: ZC4H2: Added comment: After review with Genomics England clinical team this gene was deemed valid to include on the congenital myopathy panel, as affected individuals clearly have muscle weakness. The majority of boys with it have a level of severity that it is onset in utero, leading to contractures. Arthrogryposis and congenital myopathy are a clinical continuum and as long as the neuromuscular group do not disagree, so should on both panels.; Changed rating: GREEN
Congenital myopathy v1.182 TNNC2 Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Amber rating.
Congenital myopathy v1.182 TNNC2 Louise Daugherty commented on gene: TNNC2: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26924529 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene TRIP4, but for TNNC2 the publication field was blank (no data was supplied as evidence). The Green review rating for TNNC2 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.182 MYL1 Louise Daugherty edited their review of gene: MYL1: Changed rating: GREEN
Congenital myopathy v1.182 MYPN Louise Daugherty edited their review of gene: MYPN: Changed rating: GREEN
Congenital myopathy v1.182 MYH8 Louise Daugherty Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome 158300 to Trismus-pseudocamptodactyly syndrome, 158300
Congenital myopathy v1.181 ACTN2 Louise Daugherty Deleted their comment
Congenital myopathy v1.181 ACTN2 Louise Daugherty Classified gene: ACTN2 as Green List (high evidence)
Congenital myopathy v1.181 ACTN2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.
Congenital myopathy v1.181 ACTN2 Louise Daugherty Gene: actn2 has been classified as Green List (High Evidence).
Congenital myopathy v1.180 LAMP2 Louise Daugherty Phenotypes for gene: LAMP2 were changed from vacuolar myopathy? to vacuolar myopathy?; Danon disease, 300257
Congenital myopathy v1.179 MTMR14 Louise Daugherty Phenotypes for gene: MTMR14 were changed from centronuclear myopathy to centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150
Congenital myopathy v1.178 MYBPC3 Louise Daugherty Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy to myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197
Congenital myopathy v1.177 MYL1 Louise Daugherty Classified gene: MYL1 as Green List (high evidence)
Congenital myopathy v1.177 MYL1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. New evidence PMID: 30215711 (2018) In 2 unrelated patients, each born of consanguineous Turkish parents, with congenital myopathy with fast-twitch (type II) fiber atrophy. Also a Zebrafish model indicated that myl1 is required for the normal formation and maintenance of myofibers.
Congenital myopathy v1.177 MYL1 Louise Daugherty Gene: myl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.176 MYL1 Louise Daugherty Publications for gene: MYL1 were set to 21063730
Congenital myopathy v1.175 MYL1 Louise Daugherty Phenotypes for gene: MYL1 were changed from congenital myopathy to congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414
Congenital myopathy v1.174 MYPN Louise Daugherty Classified gene: MYPN as Green List (high evidence)
Congenital myopathy v1.174 MYPN Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.174 MYPN Louise Daugherty Gene: mypn has been classified as Green List (High Evidence).
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Classified gene: ZC4H2 as Green List (high evidence)
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green based on recommendation from Guy's Hospital. Sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Congenital myopathy v1.173 ZC4H2 Louise Daugherty Gene: zc4h2 has been classified as Green List (High Evidence).
Congenital myopathy v1.172 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 23623388, 26056227
Congenital myopathy v1.171 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 23261301
Congenital myopathy v1.170 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 15689448
Congenital myopathy v1.169 DMPK Louise Daugherty reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.169 ACTN2 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red toProvisional Amber rating, this gene could be Green but given the discrepant ratings, this gene needs to be discussed by the Neurology Test Group to confirm; to: Comment on list classification: Changed rating from Red to provisional Amber rating. This gene could be Green based on cases and functional evidence but given the discrepant ratings this gene needs to be discussed by the Neurology Test Group to confirm.
Congenital myopathy v1.169 ACTN2 Louise Daugherty Classified gene: ACTN2 as Amber List (moderate evidence)
Congenital myopathy v1.169 ACTN2 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red toProvisional Amber rating, this gene could be Green but given the discrepant ratings, this gene needs to be discussed by the Neurology Test Group to confirm
Congenital myopathy v1.169 ACTN2 Louise Daugherty Gene: actn2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.168 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease to Multiple structured Core Disease; progressive early-onset muscle weakness
Congenital myopathy v1.167 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to 24692096
Congenital myopathy v1.166 SRPK3 Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.166 SRPK3 Louise Daugherty commented on gene: SRPK3: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.166 KLHL9 Louise Daugherty commented on gene: KLHL9: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 23746549 is incorrect. The original file from London South GLH correctly associates PMID: 23746549 to the gene KLHL40, but for KLHL9 the publication field was blank (no data was supplied as evidence). The Green review rating for KLHL9 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.166 TRIP4 Louise Daugherty changed review comment from: Reviewed by Ivone Leong (Genomics England Curator)
PMID: 26924529 reported on 3 families (2 Kosovo and 1 Albania) who have 2 different variants in TRIP4. The affected individuals presented with prenatal-onset SMA, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. The authors suspect a founder effect in the Kosovo families. I think I would count this as 2 cases because of this.
There is another paper (PMID: 27008887) which reported on a large family with TRIP4 variant who have neonatal hypotonia particularly marked in axial (neck and trunk) muscles, severe head lag, poor antigravity limb movements and in some patients, respiratory failure and feeding difficulties. There were no congenital contractures. OMIM has classified this variant as Davignon-Chauveau-type congenital muscular dystrophy. Could this be counted as a third case?

Genomics England clinical team who noted there was sufficient for a green rating. The fact that a second case has been found, besides the potential founder variant, and there is a supportive animal model would meet our criteria. additional paper adds evidence of a neuromuscular phenotype associated with this gene

The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; to: Reviewed by Ivone Leong (Genomics England Curator)
PMID: 26924529 reported on 3 families (2 Kosovo and 1 Albania) who have 2 different variants in TRIP4. The affected individuals presented with prenatal-onset SMA, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. The authors suspect a founder effect in the Kosovo families. I think I would count this as 2 cases because of this.
There is another paper (PMID: 27008887) which reported on a large family with TRIP4 variant who have neonatal hypotonia particularly marked in axial (neck and trunk) muscles, severe head lag, poor antigravity limb movements and in some patients, respiratory failure and feeding difficulties. There were no congenital contractures. OMIM has classified this variant as Davignon-Chauveau-type congenital muscular dystrophy. Could this be counted as a third case?

Genomics England clinical team noted there was sufficient for a green rating. The fact that a second case has been found, besides the potential founder variant, and there is a supportive animal model would meet our criteria. additional paper adds evidence of a neuromuscular phenotype associated with this gene

The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.
Congenital myopathy v1.166 Louise Daugherty List of related panels changed from to R81
Congenital myopathy v1.165 TRIP4 Louise Daugherty Classified gene: TRIP4 as Green List (high evidence)
Congenital myopathy v1.165 TRIP4 Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association. The gene is also Green on Neuromuscular disorders
Congenital myopathy v1.165 TRIP4 Louise Daugherty Gene: trip4 has been classified as Green List (High Evidence).
Congenital myopathy v1.164 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to 26924529
Congenital myopathy v1.163 TRIP4 Louise Daugherty edited their review of gene: TRIP4: Added comment: Reviewed by Ivone Leong (Genomics England Curator)
PMID: 26924529 reported on 3 families (2 Kosovo and 1 Albania) who have 2 different variants in TRIP4. The affected individuals presented with prenatal-onset SMA, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. The authors suspect a founder effect in the Kosovo families. I think I would count this as 2 cases because of this.
There is another paper (PMID: 27008887) which reported on a large family with TRIP4 variant who have neonatal hypotonia particularly marked in axial (neck and trunk) muscles, severe head lag, poor antigravity limb movements and in some patients, respiratory failure and feeding difficulties. There were no congenital contractures. OMIM has classified this variant as Davignon-Chauveau-type congenital muscular dystrophy. Could this be counted as a third case?

Genomics England clinical team who noted there was sufficient for a green rating. The fact that a second case has been found, besides the potential founder variant, and there is a supportive animal model would meet our criteria. additional paper adds evidence of a neuromuscular phenotype associated with this gene

The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN
Congenital myopathy v1.163 PAX7 Louise Daugherty Classified gene: PAX7 as Green List (high evidence)
Congenital myopathy v1.163 PAX7 Louise Daugherty Added comment: Comment on list classification: New gene added from recommendation by Genomics Clinical team. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Congenital myopathy v1.163 PAX7 Louise Daugherty Gene: pax7 has been classified as Green List (High Evidence).
Congenital myopathy v1.162 PAX7 Louise Daugherty gene: PAX7 was added
gene: PAX7 was added to Congenital myopathy. Sources: Expert Review
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX7 were set to 31092906
Phenotypes for gene: PAX7 were set to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578
Review for gene: PAX7 was set to GREEN
Added comment: As a result of adding PAX7 to Neuromuscular Disorders panel as recommended by external reviewer, Genomics England clinical team recommended this gene was added to Congenital Myopathy panel.

Original review:
Feichtinger et. al. report four independent consanguineous families with four different (homozygous) mutations in PAX7. Sources: Literature
Cristina Dias (The Francis Crick Institute), 17 Sep 2019
Sources: Expert Review
Congenital myopathy v1.161 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673
Congenital myopathy v1.160 FAM111B Louise Daugherty Phenotypes for gene: FAM111B were changed from Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3) to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704
Congenital myopathy v1.159 KLHL41 Louise Daugherty Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731
Congenital myopathy v1.156 TRIP4 Ivone Leong Phenotypes for gene: TRIP4 were changed from severe congenital myopathy with congenital bone fractures, 616866 to severe congenital myopathy with congenital bone fractures, 616866; Spinal muscular atrophy with congenital bone fractures 1, 616866
Congenital myopathy v1.155 SRPK3 Ivone Leong reviewed gene: SRPK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.155 KLHL9 Ivone Leong Phenotypes for gene: KLHL9 were changed from Early onset distal myopathy to Early onset distal myopathy; Nemaline myopathy
Congenital myopathy v1.154 KLHL9 Ivone Leong reviewed gene: KLHL9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.154 KLHL9 Ivone Leong Phenotypes for gene: KLHL9 were changed from Nemaline myopathy; early onset distal myopathy to Early onset distal myopathy
Congenital myopathy v1.153 KLHL9 Ivone Leong Phenotypes for gene: KLHL9 were changed from Nemaline myopathy to Nemaline myopathy; early onset distal myopathy
Congenital myopathy v1.152 KLHL9 Ivone Leong Publications for gene: KLHL9 were set to 23746549
Congenital myopathy v1.149 MYBPC1 Anna Sarkozy edited their review of gene: MYBPC1: Added comment: variants in this gene were found in patients tested in Viapath/100K.

this gene causes "myopathic" forms of AMC and therefore it would be appropriate to keep these genes in a myopathy panel. perhaps it might be possible to create a subpanel for diff forms (neurogenic, myopathic, CMS?) of AMC.; Set current diagnostic: yes
Congenital myopathy v1.149 LAMP2 Anna Sarkozy edited their review of gene: LAMP2: Added comment: note: this gene causes a vacuolar myopathy and perhaps could be also considered in the Vici syndrome and other autophagic disorders (panel 222). please discuss with the reviewers of that panel; Changed rating: AMBER; Changed publications: •12084876; Changed phenotypes: vacuolar myopathy, Danon disease; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Set current diagnostic: yes
Congenital myopathy v1.149 KLHL9 Anna Sarkozy reviewed gene: KLHL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 20554658; Phenotypes: early onset distal myopathy; Mode of inheritance: None; Current diagnostic: yes
Congenital myopathy v1.149 HACD1 Anna Sarkozy edited their review of gene: HACD1: Added comment: variants were described in a single family in literature. no further confirmation to date; Changed rating: AMBER
Congenital myopathy v1.149 ECEL1 Anna Sarkozy edited their review of gene: ECEL1: Added comment: note that we have now identified at least 6 urelated families with ECEL1 gene mutations. patients present a variable degree of contractural phenotype, some with more severe Arhtrogryposis but still in keeping with a diagnosis of congenital myopathy. thus we would strongly recommend for this gene to be considered in the Cong Myopathy panel.; Changed publications: 30131190; Set current diagnostic: yes
Congenital myopathy v1.149 DOK7 Anna Sarkozy reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.149 CNTN1 Anna Sarkozy edited their review of gene: CNTN1: Added comment: single family reported with CNTN1 variant.; Changed rating: AMBER
Congenital myopathy v1.149 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Added comment: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; Changed rating: AMBER; Set current diagnostic: yes
Congenital myopathy v1.149 ACTN2 Anna Sarkozy reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30701273; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.149 COL6A3 Louise Daugherty Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
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 v1.146 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy 611705 to Myopathy, early-onset, with fatal cardiomyopathy, 611705
Congenital myopathy v1.145 CASQ1 Louise Daugherty Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA) to Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231
Congenital myopathy v1.144 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
Congenital myopathy v1.143 MYPN Louise Daugherty Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
Congenital myopathy v1.142 MYPN Louise Daugherty Publications for gene: MYPN were set to 28220527
Congenital myopathy v1.141 VPS33B Louise Daugherty Phenotypes for gene: VPS33B were changed from vacuolar myopathy? to vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Congenital myopathy v1.140 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300
Congenital myopathy v1.139 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D, 615065
Congenital myopathy v1.138 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.137 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 22396310
Congenital myopathy v1.136 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy
Congenital myopathy v1.135 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915
Congenital myopathy v1.134 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868; 22101682
Congenital myopathy v1.133 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM to Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
Congenital myopathy v1.132 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to 27879346; 27858739; 25748484
Congenital myopathy v1.131 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600 to Nemaline myopathy
Congenital myopathy v1.130 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy
Congenital myopathy v1.129 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959 to Arthrogryposis multiplex congenita, distal, type 2B, 601680
Congenital myopathy v1.128 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995 to Arthyrogryposis, distal, type 2B, 601680
Congenital myopathy v1.127 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to 23736855; 28003463
Congenital myopathy v1.126 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from vacuolar myopathy? to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.125 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to 23315026
Congenital myopathy v1.124 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 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 Wieacker-Wolff syndrome, 314580
Congenital myopathy v1.123 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 12592607; 11738357; 17434307
Congenital myopathy v1.122 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856; 28012042
Congenital myopathy v1.121 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy to Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 ZC4H2 Rachael Mein edited their review of gene: ZC4H2: Changed publications: 23623388, 26056227; Changed phenotypes: Wieacker-Wolff syndrome 314580
Congenital myopathy v1.120 VPS33B Rachael Mein edited their review of gene: VPS33B: Changed publications: 15052268, 16896922; Changed phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1 208085
Congenital myopathy v1.120 VMA21 Rachael Mein edited their review of gene: VMA21: Changed publications: 23315026; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 TTN Rachael Mein edited their review of gene: TTN: Changed publications: 17444505, 23975875, 28295036; Changed phenotypes: Myopathy, early-onset, with fatal cardiomyopathy 611705
Congenital myopathy v1.120 TRIP4 Rachael Mein edited their review of gene: TRIP4: Changed publications: 26924529; Changed phenotypes: severe congenital myopathy with congenital bone fractures 616866
Congenital myopathy v1.120 TPM3 Rachael Mein edited their review of gene: TPM3: Changed rating: GREEN; Changed publications: 24692096; Changed phenotypes: CAP myopathy 1 609284, Myopathy, congenital, with fiber-type disproportion 255310, Nemaline myopathy 1, autosomal dominant or recessive 609284
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 v1.120 TNNT3 Rachael Mein edited their review of gene: TNNT3: Changed publications: 12865991, 17194691; Changed phenotypes: Arthyrogryposis, distal, type 2B 601680
Congenital myopathy v1.120 TNNT1 Rachael Mein edited their review of gene: TNNT1: Changed publications: 26296490, 25430424; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355
Congenital myopathy v1.120 TNNI2 Rachael Mein edited their review of gene: TNNI2: Changed publications: 16924011, 16924011; Changed phenotypes: Arthrogryposis multiplex congenita, distal, type 2B 601680
Congenital myopathy v1.120 TNNC2 Rachael Mein edited their review of gene: TNNC2: Changed rating: AMBER; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 STIM1 Rachael Mein edited their review of gene: STIM1: Changed publications: 23332920; Changed phenotypes: Myopathy, tubular aggregate, 160565
Congenital myopathy v1.120 STAC3 Rachael Mein edited their review of gene: STAC3: Changed publications: 23736855, 28003463; Changed phenotypes: Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.120 SRPK3 Rachael Mein edited their review of gene: SRPK3: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 SPEG Rachael Mein edited their review of gene: SPEG: Changed publications: 25087613; Changed phenotypes: Centronuclear myopathy 5 615959
Congenital myopathy v1.120 SELENON Rachael Mein edited their review of gene: SELENON: Changed publications: 26780752, 16365872; Changed phenotypes: Muscular dystrophy, rigid spine, 1 602771, Myopathy, congenital, with fiber-type disproportion 255310
Congenital myopathy v1.120 SCN4A Rachael Mein edited their review of gene: SCN4A: Changed publications: 26700687; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 RYR1 Rachael Mein edited their review of gene: RYR1: Changed publications: 26799446; Changed phenotypes: Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600
Congenital myopathy v1.120 PIEZO2 Rachael Mein edited their review of gene: PIEZO2: Changed publications: 23487782, 24726473; Changed phenotypes: Arthrogryposis, distal, type3 114300: Arthrogryposis, distal, type5 108145: Arthrogryposis, distal, with proprioception and touch 617146
Congenital myopathy v1.120 ORAI1 Rachael Mein edited their review of gene: ORAI1: Changed publications: 28058752, 25227914; Changed phenotypes: Myopathy, tubular aggregate, 2 615883
Congenital myopathy v1.120 NEB Rachael Mein edited their review of gene: NEB: Changed publications: 12207937; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030
Congenital myopathy v1.120 MYPN Rachael Mein edited their review of gene: MYPN: Changed publications: 28017374; Changed phenotypes: Nemaline myopathy 617336
Congenital myopathy v1.120 MYO18B Rachael Mein edited their review of gene: MYO18B: Changed publications: 27879346, 27858739, 25748484; Changed phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.120 MYL1 Rachael Mein edited their review of gene: MYL1: Changed publications: 21063730; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 MYH8 Rachael Mein edited their review of gene: MYH8: Changed publications: 17041932; Changed phenotypes: Trismus-pseudocamptodactyly syndrome 158300
Congenital myopathy v1.120 MYH7 Rachael Mein edited their review of gene: MYH7: Changed publications: 15322983; Changed phenotypes: Laing Distal Myopathy 160500
Congenital myopathy v1.120 MYH3 Rachael Mein edited their review of gene: MYH3: Changed publications: 18695058, 26578207; Changed phenotypes: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110
Congenital myopathy v1.120 MYH2 Rachael Mein edited their review of gene: MYH2: Changed publications: 11114175, 23489661; Changed phenotypes: Proximal myopathy and ophthalmoplegia 605637
Congenital myopathy v1.120 MYBPC3 Rachael Mein edited their review of gene: MYBPC3: Changed publications: 19858127; Changed phenotypes: myopathy and cardiomyopathy
Congenital myopathy v1.120 MYBPC1 Rachael Mein edited their review of gene: MYBPC1: Changed publications: 20045868; Changed phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.120 MTMR14 Rachael Mein edited their review of gene: MTMR14: Changed publications: 19465920; Changed phenotypes: centronuclear myopathy
Congenital myopathy v1.120 MTM1 Rachael Mein edited their review of gene: MTM1: Changed publications: 8640223; Changed phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400
Congenital myopathy v1.120 MEGF10 Rachael Mein edited their review of gene: MEGF10: Changed publications: 22101682; Changed phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Congenital myopathy v1.120 MAP3K20 Rachael Mein edited their review of gene: MAP3K20: Changed publications: 27816943; Changed phenotypes: Centronuclear myopathy 6 with fiber-type disproportion 617760
Congenital myopathy v1.120 LMOD3 Rachael Mein edited their review of gene: LMOD3: Changed publications: 25250574; Changed phenotypes: Nemaline myopathy 10 616165
Congenital myopathy v1.120 LAMP2 Rachael Mein edited their review of gene: LAMP2: Changed publications: 12084876, 21415759; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 KLHL9 Rachael Mein edited their review of gene: KLHL9: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 KLHL41 Rachael Mein edited their review of gene: KLHL41: Changed publications: 24268659; Changed phenotypes: Nemaline myopathy 9, 615731 (3)
Congenital myopathy v1.120 KLHL40 Rachael Mein edited their review of gene: KLHL40: Changed publications: 23746549; Changed phenotypes: Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.120 KBTBD13 Rachael Mein edited their review of gene: KBTBD13: Changed publications: 21109227; Changed phenotypes: Nemaline Myopathy, Dominant, Nemaline myopathy 6, autosomal dominant, 609273
Congenital myopathy v1.120 HACD1 Rachael Mein edited their review of gene: HACD1: Changed publications: 23933735; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 EPG5 Rachael Mein edited their review of gene: EPG5: Changed publications: 23222957; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 ECEL1 Rachael Mein edited their review of gene: ECEL1: Changed publications: 23261301; Changed phenotypes: Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.120 DOK7 Rachael Mein edited their review of gene: DOK7: Changed publications: 16917026; Changed phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300
Congenital myopathy v1.120 DNM2 Rachael Mein edited their review of gene: DNM2: Changed publications: 22396310; Changed phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.120 COL6A3 Rachael Mein edited their review of gene: COL6A3: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A2 Rachael Mein edited their review of gene: COL6A2: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A1 Rachael Mein edited their review of gene: COL6A1: Changed publications: 25535305, 15955946, 23738969; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL12A1 Rachael Mein edited their review of gene: COL12A1: Changed publications: 24334604; Changed phenotypes: EDS/myopathy overlap syndrome
Congenital myopathy v1.120 CNTN1 Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.120 CFL2 Rachael Mein edited their review of gene: CFL2: Changed rating: GREEN; Changed publications: 22560515, 17160903, 24610938; Changed phenotypes: Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive
Congenital myopathy v1.120 CCDC78 Rachael Mein edited their review of gene: CCDC78: Changed publications: 22818856; Changed phenotypes: Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 CASQ1 Rachael Mein edited their review of gene: CASQ1: Changed rating: AMBER; Changed publications: 25116801; Changed phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231
Congenital myopathy v1.120 CACNA1S Rachael Mein edited their review of gene: CACNA1S: Changed publications: 28012042; Changed phenotypes: Hypokalemic periodic paralyisis type 1 170400: congenital myopathy
Congenital myopathy v1.120 BIN1 Rachael Mein edited their review of gene: BIN1: Changed rating: GREEN; Changed publications: 17676042; Changed phenotypes: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200
Congenital myopathy v1.120 ACTN2 Rachael Mein edited their review of gene: ACTN2: Changed rating: AMBER; Changed phenotypes: Multiple structured Core Disease
Congenital myopathy v1.119 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to Multiple structured Core Disease
Congenital myopathy v1.118 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.117 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.116 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v1.115 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy
Congenital myopathy v1.114 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v1.113 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to
Congenital myopathy v1.112 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284
Congenital myopathy v1.111 ACTN2 Louise Daugherty Mode of inheritance for gene: ACTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.110 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310; 15689448
Congenital myopathy v1.109 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310
Congenital myopathy v1.108 DNAJB6 Louise Daugherty Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant to Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511
Congenital myopathy v1.107 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from to vacuolar myopathy?
Congenital myopathy v1.106 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to
Congenital myopathy v1.105 TRIP4 Louise Daugherty Mode of inheritance for gene: TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.104 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B 601680 to Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.103 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to
Congenital myopathy v1.102 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959
Congenital myopathy v1.101 TNNI2 Louise Daugherty Publications for gene: TNNI2 were set to 16924011; 16924011
Congenital myopathy v1.100 TNNC2 Louise Daugherty Publications for gene: TNNC2 were set to
Congenital myopathy v1.99 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.98 TNNC2 Louise Daugherty Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.97 SRPK3 Louise Daugherty Publications for gene: SRPK3 were set to
Congenital myopathy v1.96 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from to Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600
Congenital myopathy v1.95 SRPK3 Louise Daugherty Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.94 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis to Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.93 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to
Congenital myopathy v1.92 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.91 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.90 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868
Congenital myopathy v1.89 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from to Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.88 KLHL9 Louise Daugherty Publications for gene: KLHL9 were set to
Congenital myopathy v1.87 KLHL9 Louise Daugherty Mode of inheritance for gene: KLHL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.86 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.85 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to
Congenital myopathy v1.84 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.83 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.82 DOK7 Louise Daugherty Publications for gene: DOK7 were set to
Congenital myopathy v1.81 DOK7 Louise Daugherty Mode of inheritance for gene: DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.80 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 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, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680
Congenital myopathy v1.79 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.78 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to
Congenital myopathy v1.77 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.76 MAP3K20 Louise Daugherty edited their review of gene: MAP3K20: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TRIP4 Louise Daugherty reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CASQ1 Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNC2 Louise Daugherty reviewed gene: TNNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ZC4H2 Louise Daugherty reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VMA21 Louise Daugherty reviewed gene: VMA21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM3 Louise Daugherty reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM2 Louise Daugherty reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT3 Louise Daugherty reviewed gene: TNNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT1 Louise Daugherty reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNI2 Louise Daugherty reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STAC3 Louise Daugherty reviewed gene: STAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SRPK3 Louise Daugherty reviewed gene: SRPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SPEG Louise Daugherty reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 RYR1 Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 PIEZO2 Louise Daugherty reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ORAI1 Louise Daugherty reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 NEB Louise Daugherty reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYO18B Louise Daugherty reviewed gene: MYO18B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYL1 Louise Daugherty reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH8 Louise Daugherty reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH7 Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH3 Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH2 Louise Daugherty reviewed gene: MYH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC3 Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC1 Louise Daugherty reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTMR14 Louise Daugherty reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTM1 Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MEGF10 Louise Daugherty reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LMOD3 Louise Daugherty reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL9 Louise Daugherty reviewed gene: KLHL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL41 Louise Daugherty reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL40 Louise Daugherty reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KBTBD13 Louise Daugherty reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 HACD1 Louise Daugherty reviewed gene: HACD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 EPG5 Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ECEL1 Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CNTN1 Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CFL2 Louise Daugherty reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CCDC78 Louise Daugherty reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 BIN1 Louise Daugherty reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 MAP3K20 Rachael Mein reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623388, 26056227; Phenotypes: Wieacker-Wolff syndrome, 314580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYPN Rachael Mein reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15052268, 16896922; Phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TRIP4 Rachael Mein reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026; Phenotypes: vacuolar myopathy?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CASQ1 Rachael Mein reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17444505, 23975875, 28295036; Phenotypes: Myopathy, early-onset, with fatal cardiomyopathy, 611705; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNC2 Rachael Mein reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: severe congenital myopathy with congenital bone fractures, 616866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.75 ACTN2 Rachael Mein reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24692096; Phenotypes: CAP myopathy 1, 609284, Myopathy, congenital, with fiber-type disproportion, 255310, Nemaline myopathy 1, autosomal dominant or recessive, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 ZC4H2 Rachael Mein reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 11738357, 17434307; Phenotypes: CAP myopathy 2, 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 VPS33B Rachael Mein reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12865991, 17194691; Phenotypes: Arthyrogryposis, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 VMA21 Rachael Mein reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26296490, 25430424; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 TTN Rachael Mein reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 16924011, 16924011; Phenotypes: Arthrogryposis multiplex congenita, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TPM3 Rachael Mein reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v1.75 TNNT3 Rachael Mein reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23736855, 28003463; Phenotypes: Myopathy, congenital, Baily-Bloch, 255995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNT1 Rachael Mein reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TNNI2 Rachael Mein reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: Centronuclear myopathy 5, 615959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STIM1 Rachael Mein reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26780752, 16365872; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion, 255310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STAC3 Rachael Mein reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26700687; Phenotypes: congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SRPK3 Rachael Mein reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26799446; Phenotypes: Central core disease, 117000, Minicore myopathy with external ophthalmoplegia, 255320, Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Malignant hyperthermia susceptibility 1, 145600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 SPEG Rachael Mein reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 23487782, 24726473; Phenotypes: Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SELENON Rachael Mein reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 28058752, 25227914; Phenotypes: Myopathy, tubular aggregate, 2 615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 SCN4A Rachael Mein reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12207937; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 RYR1 Rachael Mein reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Nemaline myopathy 617336; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.75 PIEZO2 Rachael Mein reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27879346, 27858739, 25748484; Phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 ORAI1 Rachael Mein reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21063730; Phenotypes: congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 NEB Rachael Mein reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 17041932; Phenotypes: Trismus-pseudocamptodactyly syndrome, 158300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYO18B Rachael Mein reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322983; Phenotypes: Laing Distal Myopathy, 160500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYL1 Rachael Mein reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18695058, 26578207; Phenotypes: Arthrogryposis, distal, type 2A, 193700, Arthrogryposis, distal, type 2B, 601680, Arthrogryposis, distal, type 8, 178110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYH8 Rachael Mein reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11114175, 23489661; Phenotypes: Proximal myopathy and ophthalmoplegia, 605637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH7 Rachael Mein reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19858127; Phenotypes: myopathy and cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH3 Rachael Mein reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20045868; Phenotypes: Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 MYH2 Rachael Mein reviewed gene: MYH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465920; Phenotypes: centronuclear myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYBPC3 Rachael Mein reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640223; Phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYBPC1 Rachael Mein reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22101682; Phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MTMR14 Rachael Mein reviewed gene: MTMR14: Rating: GREEN; Mode of pathogenicity: ; Publications: 27816943; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion, 617760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.75 MTM1 Rachael Mein reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25250574; Phenotypes: Nemaline myopathy 10, 616165; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 MEGF10 Rachael Mein reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 12084876, 21415759; Phenotypes: vacuolar myopathy?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 LMOD3 Rachael Mein reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 LAMP2 Rachael Mein reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268659; Phenotypes: Nemaline myopathy 9, 615731; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital myopathy v1.75 KLHL9 Rachael Mein reviewed gene: KLHL9: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746549; Phenotypes: Nemaline myopathy 8, autosomal recessive, 615348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 KLHL41 Rachael Mein reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: ; Publications: 21109227; Phenotypes: Nemaline Myopathy, Dominant, Nemaline myopathy 6, autosomal dominant, 609273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 KLHL40 Rachael Mein reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: ; Publications: 23933735; Phenotypes: congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 KBTBD13 Rachael Mein reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957; Phenotypes: vacuolar myopathy?; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 HACD1 Rachael Mein reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: Arthrogryposis, distal, type 5D, 615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 EPG5 Rachael Mein reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16917026; Phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 ECEL1 Rachael Mein reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22396310; Phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 DOK7 Rachael Mein reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 DNM2 Rachael Mein reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 COL6A3 Rachael Mein reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25535305, 15955946, 23738969; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL6A2 Rachael Mein reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: EDS/myopathy overlap syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL6A1 Rachael Mein reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19026398; Phenotypes: ?Myopathy, congenital, Compton-North, 612540; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 COL12A1 Rachael Mein reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22560515, 17160903, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CNTN1 Rachael Mein reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: Myopathy, centronuclear, 4, 614807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CFL2 Rachael Mein reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25116801; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, 616231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.75 CCDC78 Rachael Mein reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 28012042; Phenotypes: Hypokalemic periodic paralyisis type 1, 170400, congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 CACNA1S Rachael Mein reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042; Phenotypes: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 BIN1 Rachael Mein reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple structured Core Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.75 ACTA1 Rachael Mein reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22825594, 19562689; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 ZC4H2 Louise Daugherty Source NHS GMS was added to ZC4H2.
Congenital myopathy v1.74 VPS33B Louise Daugherty Source NHS GMS was added to VPS33B.
Congenital myopathy v1.74 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Congenital myopathy v1.74 TTN Louise Daugherty Source NHS GMS was added to TTN.
Congenital myopathy v1.74 TRIP4 Louise Daugherty Source NHS GMS was added to TRIP4.
Congenital myopathy v1.74 TPM3 Louise Daugherty Source NHS GMS was added to TPM3.
Congenital myopathy v1.74 TPM2 Louise Daugherty Source NHS GMS was added to TPM2.
Congenital myopathy v1.74 TNNT3 Louise Daugherty Source NHS GMS was added to TNNT3.
Congenital myopathy v1.74 TNNT1 Louise Daugherty Source NHS GMS was added to TNNT1.
Congenital myopathy v1.74 TNNI2 Louise Daugherty Source NHS GMS was added to TNNI2.
Congenital myopathy v1.74 TNNC2 Louise Daugherty Source NHS GMS was added to TNNC2.
Congenital myopathy v1.74 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Congenital myopathy v1.74 STAC3 Louise Daugherty Source NHS GMS was added to STAC3.
Congenital myopathy v1.74 SRPK3 Louise Daugherty Source NHS GMS was added to SRPK3.
Congenital myopathy v1.74 SPEG Louise Daugherty Source NHS GMS was added to SPEG.
Congenital myopathy v1.74 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Congenital myopathy v1.74 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Congenital myopathy v1.74 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Congenital myopathy v1.74 PIEZO2 Louise Daugherty Source NHS GMS was added to PIEZO2.
Congenital myopathy v1.74 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Congenital myopathy v1.74 NEB Louise Daugherty Source NHS GMS was added to NEB.
Congenital myopathy v1.74 MYPN Louise Daugherty Source NHS GMS was added to MYPN.
Congenital myopathy v1.74 MYO18B Louise Daugherty Source NHS GMS was added to MYO18B.
Congenital myopathy v1.74 MYL1 Louise Daugherty Source NHS GMS was added to MYL1.
Congenital myopathy v1.74 MYH8 Louise Daugherty Source NHS GMS was added to MYH8.
Congenital myopathy v1.74 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Congenital myopathy v1.74 MYH3 Louise Daugherty Source NHS GMS was added to MYH3.
Congenital myopathy v1.74 MYH2 Louise Daugherty Source NHS GMS was added to MYH2.
Congenital myopathy v1.74 MYBPC3 Louise Daugherty Source NHS GMS was added to MYBPC3.
Congenital myopathy v1.74 MYBPC1 Louise Daugherty Source NHS GMS was added to MYBPC1.
Congenital myopathy v1.74 MTMR14 Louise Daugherty Source NHS GMS was added to MTMR14.
Congenital myopathy v1.74 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Congenital myopathy v1.74 MEGF10 Louise Daugherty Source NHS GMS was added to MEGF10.
Congenital myopathy v1.74 MAP3K20 Louise Daugherty Source NHS GMS was added to MAP3K20.
Congenital myopathy v1.74 LMOD3 Louise Daugherty Source NHS GMS was added to LMOD3.
Congenital myopathy v1.74 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Congenital myopathy v1.74 KLHL9 Louise Daugherty Source NHS GMS was added to KLHL9.
Congenital myopathy v1.74 KLHL41 Louise Daugherty Source NHS GMS was added to KLHL41.
Congenital myopathy v1.74 KLHL40 Louise Daugherty Source NHS GMS was added to KLHL40.
Congenital myopathy v1.74 KBTBD13 Louise Daugherty Source NHS GMS was added to KBTBD13.
Congenital myopathy v1.74 HACD1 Louise Daugherty Source NHS GMS was added to HACD1.
Congenital myopathy v1.74 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Congenital myopathy v1.74 ECEL1 Louise Daugherty Source NHS GMS was added to ECEL1.
Congenital myopathy v1.74 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Congenital myopathy v1.74 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Congenital myopathy v1.74 COL6A3 Louise Daugherty Source NHS GMS was added to COL6A3.
Congenital myopathy v1.74 COL6A2 Louise Daugherty Source NHS GMS was added to COL6A2.
Congenital myopathy v1.74 COL6A1 Louise Daugherty Source NHS GMS was added to COL6A1.
Congenital myopathy v1.74 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Congenital myopathy v1.74 CNTN1 Louise Daugherty Source NHS GMS was added to CNTN1.
Congenital myopathy v1.74 CFL2 Louise Daugherty Source NHS GMS was added to CFL2.
Congenital myopathy v1.74 CCDC78 Louise Daugherty Source NHS GMS was added to CCDC78.
Congenital myopathy v1.74 CASQ1 Louise Daugherty Source NHS GMS was added to CASQ1.
Congenital myopathy v1.74 CACNA1S Louise Daugherty Source NHS GMS was added to CACNA1S.
Congenital myopathy v1.74 BIN1 Louise Daugherty Source NHS GMS was added to BIN1.
Congenital myopathy v1.74 ACTN2 Louise Daugherty Source NHS GMS was added to ACTN2.
Congenital myopathy v1.74 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Congenital myopathy v1.73 ZC4H2 Louise Daugherty gene: ZC4H2 was added
gene: ZC4H2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ZC4H2 was set to
Congenital myopathy v1.73 VPS33B Louise Daugherty Source London South GLH was added to VPS33B.
Congenital myopathy v1.73 VMA21 Louise Daugherty Source London South GLH was added to VMA21.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TTN Louise Daugherty Source London South GLH was added to TTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TRIP4 Louise Daugherty gene: TRIP4 was added
gene: TRIP4 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: TRIP4 was set to
Congenital myopathy v1.73 TPM3 Louise Daugherty Source London South GLH was added to TPM3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Congenital myopathy v1.73 TNNT3 Louise Daugherty Source London South GLH was added to TNNT3.
Congenital myopathy v1.73 TNNT1 Louise Daugherty Source London South GLH was added to TNNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 TNNI2 Louise Daugherty Source London South GLH was added to TNNI2.
Congenital myopathy v1.73 TNNC2 Louise Daugherty gene: TNNC2 was added
gene: TNNC2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: TNNC2 was set to
Congenital myopathy v1.73 STIM1 Louise Daugherty Source London South GLH was added to STIM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 STAC3 Louise Daugherty Source London South GLH was added to STAC3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 SRPK3 Louise Daugherty gene: SRPK3 was added
gene: SRPK3 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: SRPK3 was set to
Congenital myopathy v1.73 SPEG Louise Daugherty Source London South GLH was added to SPEG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 SELENON Louise Daugherty Source London South GLH was added to SELENON.
Congenital myopathy v1.73 SCN4A Louise Daugherty Source London South GLH was added to SCN4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 RYR1 Louise Daugherty Source London South GLH was added to RYR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 PIEZO2 Louise Daugherty Source London South GLH was added to PIEZO2.
Congenital myopathy v1.73 ORAI1 Louise Daugherty Source London South GLH was added to ORAI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 NEB Louise Daugherty Source London South GLH was added to NEB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYPN Louise Daugherty Source London South GLH was added to MYPN.
Congenital myopathy v1.73 MYO18B Louise Daugherty Source London South GLH was added to MYO18B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYL1 Louise Daugherty Source London South GLH was added to MYL1.
Congenital myopathy v1.73 MYH8 Louise Daugherty Source London South GLH was added to MYH8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH7 Louise Daugherty Source London South GLH was added to MYH7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH3 Louise Daugherty Source London South GLH was added to MYH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYH2 Louise Daugherty Source London South GLH was added to MYH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MYBPC3 Louise Daugherty Source London South GLH was added to MYBPC3.
Congenital myopathy v1.73 MYBPC1 Louise Daugherty Source London South GLH was added to MYBPC1.
Congenital myopathy v1.73 MTMR14 Louise Daugherty Source London South GLH was added to MTMR14.
Congenital myopathy v1.73 MTM1 Louise Daugherty Source London South GLH was added to MTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MEGF10 Louise Daugherty Source London South GLH was added to MEGF10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 MAP3K20 Louise Daugherty Source London South GLH was added to MAP3K20.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 LMOD3 Louise Daugherty Source London South GLH was added to LMOD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 LAMP2 Louise Daugherty Source London South GLH was added to LAMP2.
Congenital myopathy v1.73 KLHL9 Louise Daugherty gene: KLHL9 was added
gene: KLHL9 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: KLHL9 was set to
Congenital myopathy v1.73 KLHL41 Louise Daugherty Source London South GLH was added to KLHL41.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 KLHL40 Louise Daugherty Source London South GLH was added to KLHL40.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 KBTBD13 Louise Daugherty Source London South GLH was added to KBTBD13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 HACD1 Louise Daugherty Source London South GLH was added to HACD1.
Congenital myopathy v1.73 EPG5 Louise Daugherty Source London South GLH was added to EPG5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 ECEL1 Louise Daugherty Source London South GLH was added to ECEL1.
Congenital myopathy v1.73 DOK7 Louise Daugherty gene: DOK7 was added
gene: DOK7 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: DOK7 was set to
Congenital myopathy v1.73 DNM2 Louise Daugherty Source London South GLH was added to DNM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A3 Louise Daugherty Source London South GLH was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A2 Louise Daugherty Source London South GLH was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL6A1 Louise Daugherty Source London South GLH was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 COL12A1 Louise Daugherty Source London South GLH was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 CNTN1 Louise Daugherty Source London South GLH was added to CNTN1.
Congenital myopathy v1.73 CFL2 Louise Daugherty Source London South GLH was added to CFL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 CCDC78 Louise Daugherty Source London South GLH was added to CCDC78.
Congenital myopathy v1.73 CASQ1 Louise Daugherty Source London South GLH was added to CASQ1.
Congenital myopathy v1.73 CACNA1S Louise Daugherty Source London South GLH was added to CACNA1S.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 BIN1 Louise Daugherty Source London South GLH was added to BIN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.73 ACTN2 Louise Daugherty gene: ACTN2 was added
gene: ACTN2 was added to Congenital myopathy. Sources: London South GLH
Mode of inheritance for gene: ACTN2 was set to
Congenital myopathy v1.73 ACTA1 Louise Daugherty Source London South GLH was added to ACTA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy v1.72 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Congenital myopathy v1.71 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Congenital myopathy v1.70 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.69 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.68 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.66 AR_CAG Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Congenital myopathy v1.65 AR_CAG Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Congenital myopathy v1.65 AR_CAG Louise Daugherty Tag STR tag was added to STR: AR_CAG.
Congenital myopathy v1.65 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Congenital myopathy v1.65 AR_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Congenital myopathy v1.65 AR_CAG Arianna Tucci Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v1.65 AR_CAG Arianna Tucci Classified STR: AR_CAG as Green List (high evidence)
Congenital myopathy v1.65 AR_CAG Arianna Tucci Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v1.64 AR_CAG Arianna Tucci STR: AR_CAG was added
STR: AR_CAG was added to Congenital myopathy. Sources: Expert list
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
STR: AR_CAG was marked as current diagnostic
Added comment: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert list
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.62 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Congenital myopathy v1.61 DMPK_CTG Arianna Tucci reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v1.61 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Congenital myopathy v1.60 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Congenital myopathy v1.60 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital myopathy v1.60 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Congenital myopathy DMPK Ellen McDonagh Added STR to panel
Congenital myopathy STIM1 Sarah Leigh reviewed STIM1
Congenital myopathy MAP3K20 Louise Daugherty commented on MAP3K20
Congenital myopathy HTRA2 Sarah Leigh classified HTRA2 as green
Congenital myopathy HTRA2 Sarah Leigh added HTRA2 to panel
Congenital myopathy HTRA2 Sarah Leigh reviewed HTRA2
Congenital myopathy TMEM8C Sarah Leigh classified TMEM8C as green
Congenital myopathy TMEM8C Sarah Leigh added TMEM8C to panel
Congenital myopathy TMEM8C Sarah Leigh reviewed TMEM8C
Congenital myopathy LGI4 Louise Daugherty classified LGI4 as green
Congenital myopathy LGI4 Louise Daugherty added LGI4 to panel
Congenital myopathy LGI4 Louise Daugherty reviewed LGI4
Congenital myopathy SPTBN4 Rebecca Foulger classified SPTBN4 as red
Congenital myopathy SPTBN4 Rebecca Foulger added SPTBN4 to panel
Congenital myopathy SPTBN4 Rebecca Foulger reviewed SPTBN4
Congenital myopathy MAP3K20 Helen Brittain marked MAP3K20* as ready
Congenital myopathy MAP3K20 Helen Brittain classified MAP3K20* as green
Congenital myopathy MAP3K20 Helen Brittain commented on MAP3K20*
Congenital myopathy ZAK Helen Brittain marked ZAK* as ready
Congenital myopathy ZAK Helen Brittain classified ZAK* as green
Congenital myopathy ZAK Helen Brittain commented on ZAK*
Congenital myopathy VPS33B Helen Brittain marked VPS33B as ready
Congenital myopathy VPS33B Helen Brittain classified VPS33B as amber
Congenital myopathy VPS33B Helen Brittain commented on VPS33B
Congenital myopathy VMA21 Helen Brittain marked VMA21 as ready
Congenital myopathy VMA21 Helen Brittain classified VMA21 as green
Congenital myopathy VMA21 Helen Brittain commented on VMA21
Congenital myopathy LAMP2 Helen Brittain marked LAMP2 as ready
Congenital myopathy LAMP2 Helen Brittain classified LAMP2 as amber
Congenital myopathy LAMP2 Helen Brittain commented on LAMP2
Congenital myopathy EPG5 Helen Brittain marked EPG5 as ready
Congenital myopathy EPG5 Helen Brittain classified EPG5 as green
Congenital myopathy EPG5 Helen Brittain commented on EPG5
Congenital myopathy CASQ1 Helen Brittain marked CASQ1 as ready
Congenital myopathy CASQ1 Helen Brittain classified CASQ1 as amber
Congenital myopathy CASQ1 Helen Brittain commented on CASQ1
Congenital myopathy SCN4A Helen Brittain marked SCN4A as ready
Congenital myopathy SCN4A Helen Brittain classified SCN4A as green
Congenital myopathy SCN4A Helen Brittain commented on SCN4A
Congenital myopathy PIEZO2 Helen Brittain marked PIEZO2 as ready
Congenital myopathy PIEZO2 Helen Brittain classified PIEZO2 as red
Congenital myopathy PIEZO2 Helen Brittain commented on PIEZO2
Congenital myopathy NEFL Helen Brittain marked NEFL as ready
Congenital myopathy NEFL Helen Brittain classified NEFL as amber
Congenital myopathy NEFL Helen Brittain commented on NEFL
Congenital myopathy MYPN Helen Brittain marked MYPN as ready
Congenital myopathy MYPN Helen Brittain commented on MYPN
Congenital myopathy MYPN Helen Brittain classified MYPN as amber
Congenital myopathy MYO18B Helen Brittain marked MYO18B as ready
Congenital myopathy MYO18B Helen Brittain commented on MYO18B
Congenital myopathy MYO18B Helen Brittain classified MYO18B as green
Congenital myopathy MYL1 Helen Brittain marked MYL1 as ready
Congenital myopathy MYL1 Helen Brittain classified MYL1 as amber
Congenital myopathy MYL1 Helen Brittain commented on MYL1
Congenital myopathy MYBPC3 Helen Brittain marked MYBPC3 as ready
Congenital myopathy MYBPC3 Helen Brittain classified MYBPC3 as amber
Congenital myopathy MYBPC3 Helen Brittain commented on MYBPC3
Congenital myopathy MTMR14 Helen Brittain marked MTMR14 as ready
Congenital myopathy MTMR14 Helen Brittain commented on MTMR14
Congenital myopathy MTMR14 Helen Brittain classified MTMR14 as amber
Congenital myopathy LMNA Helen Brittain marked LMNA as ready
Congenital myopathy LMNA Helen Brittain classified LMNA as green
Congenital myopathy LMNA Helen Brittain commented on LMNA
Congenital myopathy KY Helen Brittain marked KY as ready
Congenital myopathy KY Helen Brittain classified KY as amber
Congenital myopathy KY Helen Brittain commented on KY
Congenital myopathy HACD1 Helen Brittain marked HACD1 as ready
Congenital myopathy HACD1 Helen Brittain classified HACD1 as amber
Congenital myopathy HACD1 Helen Brittain commented on HACD1
Congenital myopathy COL12A1 Helen Brittain marked COL12A1 as ready
Congenital myopathy COL12A1 Helen Brittain classified COL12A1 as green
Congenital myopathy COL12A1 Helen Brittain commented on COL12A1
Congenital myopathy CACNA1S Helen Brittain marked CACNA1S as ready
Congenital myopathy CACNA1S Helen Brittain commented on CACNA1S
Congenital myopathy CACNA1S Helen Brittain classified CACNA1S as green
Congenital myopathy STAC3 Helen Brittain marked STAC3 as ready
Congenital myopathy STAC3 Helen Brittain classified STAC3 as green
Congenital myopathy TNNT3 Helen Brittain marked TNNT3 as ready
Congenital myopathy TNNI2 Helen Brittain marked TNNI2 as ready
Congenital myopathy MYBPC1 Helen Brittain marked MYBPC1 as ready
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as amber
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as amber
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as red
Congenital myopathy ZAK Anna Sarkozy reviewed ZAK*
Congenital myopathy MAP3K20 Anna Sarkozy reviewed MAP3K20*
Congenital myopathy NEFL Anna Sarkozy reviewed NEFL
Congenital myopathy MYPN Anna Sarkozy reviewed MYPN
Congenital myopathy LMNA Anna Sarkozy reviewed LMNA
Congenital myopathy KY Anna Sarkozy reviewed KY
Congenital myopathy COL12A1 Anna Sarkozy reviewed COL12A1
Congenital myopathy CASQ1 Anna Sarkozy reviewed CASQ1
Congenital myopathy VPS33B Anna Sarkozy reviewed VPS33B
Congenital myopathy LAMP2 Anna Sarkozy reviewed LAMP2
Congenital myopathy VMA21 Anna Sarkozy reviewed VMA21
Congenital myopathy EPG5 Anna Sarkozy reviewed EPG5
Congenital myopathy PIEZO2 Anna Sarkozy reviewed PIEZO2
Congenital myopathy MYL1 Anna Sarkozy reviewed MYL1
Congenital myopathy MYO18B Anna Sarkozy reviewed MYO18B
Congenital myopathy MTMR14 Anna Sarkozy reviewed MTMR14
Congenital myopathy HACD1 Anna Sarkozy reviewed HACD1
Congenital myopathy SCN4A Anna Sarkozy reviewed SCN4A
Congenital myopathy CACNA1S Anna Sarkozy reviewed CACNA1S
Congenital myopathy MYBPC3 Anna Sarkozy reviewed MYBPC3
Congenital myopathy YARS2 Anna Sarkozy reviewed YARS2
Congenital myopathy VCP Anna Sarkozy reviewed VCP
Congenital myopathy TNNT3 Anna Sarkozy reviewed TNNT3
Congenital myopathy TNNI2 Anna Sarkozy reviewed TNNI2
Congenital myopathy TIA1 Anna Sarkozy reviewed TIA1
Congenital myopathy STIM2 Anna Sarkozy reviewed STIM2
Congenital myopathy STAC3 Anna Sarkozy reviewed STAC3
Congenital myopathy SLC25A42 Anna Sarkozy reviewed SLC25A42
Congenital myopathy RBCK1 Anna Sarkozy reviewed RBCK1
Congenital myopathy PUS1 Anna Sarkozy reviewed PUS1
Congenital myopathy PNPLA2 Anna Sarkozy reviewed PNPLA2
Congenital myopathy MYOT Anna Sarkozy reviewed MYOT
Congenital myopathy MYH14 Anna Sarkozy reviewed MYH14
Congenital myopathy MYF6 Anna Sarkozy reviewed MYF6
Congenital myopathy MYBPC1 Anna Sarkozy reviewed MYBPC1
Congenital myopathy MT-TL1 Anna Sarkozy reviewed MT-TL1
Congenital myopathy MATR3 Anna Sarkozy reviewed MATR3
Congenital myopathy LDB3 Anna Sarkozy reviewed LDB3
Congenital myopathy ISCU Anna Sarkozy reviewed ISCU
Congenital myopathy HRAS Anna Sarkozy reviewed HRAS
Congenital myopathy HNRNPA1 Anna Sarkozy reviewed HNRNPA1
Congenital myopathy GNE Anna Sarkozy reviewed GNE
Congenital myopathy GFER Anna Sarkozy reviewed GFER
Congenital myopathy FLNC Anna Sarkozy reviewed FLNC
Congenital myopathy FAM111B Anna Sarkozy reviewed FAM111B
Congenital myopathy ECEL1 Anna Sarkozy reviewed ECEL1
Congenital myopathy DYSF Anna Sarkozy reviewed DYSF
Congenital myopathy DNAJB6 Anna Sarkozy reviewed DNAJB6
Congenital myopathy DMPK Anna Sarkozy reviewed DMPK
Congenital myopathy DES Anna Sarkozy reviewed DES
Congenital myopathy CRYAB Anna Sarkozy reviewed CRYAB
Congenital myopathy CPT2 Anna Sarkozy reviewed CPT2
Congenital myopathy COL9A3 Anna Sarkozy reviewed COL9A3
Congenital myopathy CNTN1 Anna Sarkozy reviewed CNTN1
Congenital myopathy CHCHD10 Anna Sarkozy reviewed CHCHD10
Congenital myopathy CCDC78 Anna Sarkozy reviewed CCDC78
Congenital myopathy CAV3 Anna Sarkozy reviewed CAV3
Congenital myopathy ATP2A1 Anna Sarkozy reviewed ATP2A1
Congenital myopathy TTN Anna Sarkozy reviewed TTN
Congenital myopathy TPM3 Anna Sarkozy reviewed TPM3
Congenital myopathy TPM2 Anna Sarkozy reviewed TPM2
Congenital myopathy TNNT1 Anna Sarkozy reviewed TNNT1
Congenital myopathy STIM1 Anna Sarkozy reviewed STIM1
Congenital myopathy SPEG Anna Sarkozy reviewed SPEG
Congenital myopathy SLC25A4 Anna Sarkozy reviewed SLC25A4
Congenital myopathy SEPN1 Anna Sarkozy reviewed SEPN1
Congenital myopathy RYR1 Anna Sarkozy reviewed RYR1
Congenital myopathy ORAI1 Anna Sarkozy reviewed ORAI1
Congenital myopathy NEB Anna Sarkozy reviewed NEB
Congenital myopathy MYH8 Anna Sarkozy reviewed MYH8
Congenital myopathy MYH7 Anna Sarkozy reviewed MYH7
Congenital myopathy MYH3 Anna Sarkozy reviewed MYH3
Congenital myopathy MYH2 Anna Sarkozy reviewed MYH2
Congenital myopathy MTM1 Anna Sarkozy reviewed MTM1
Congenital myopathy MICU1 Anna Sarkozy reviewed MICU1
Congenital myopathy MEGF10 Anna Sarkozy reviewed MEGF10
Congenital myopathy LMOD3 Anna Sarkozy reviewed LMOD3
Congenital myopathy KLHL41 Anna Sarkozy reviewed KLHL41
Congenital myopathy KLHL40 Anna Sarkozy reviewed KLHL40
Congenital myopathy KBTBD13 Anna Sarkozy reviewed KBTBD13
Congenital myopathy FKBP14 Anna Sarkozy reviewed FKBP14
Congenital myopathy DNM2 Anna Sarkozy reviewed DNM2
Congenital myopathy COL6A3 Anna Sarkozy reviewed COL6A3
Congenital myopathy COL6A2 Anna Sarkozy reviewed COL6A2
Congenital myopathy COL6A1 Anna Sarkozy reviewed COL6A1
Congenital myopathy CFL2 Anna Sarkozy reviewed CFL2
Congenital myopathy BIN1 Anna Sarkozy reviewed BIN1
Congenital myopathy BAG3 Anna Sarkozy reviewed BAG3
Congenital myopathy ACTA1 Anna Sarkozy reviewed ACTA1
Congenital myopathy Helen Brittain promoted panel to version 1
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myopathy COL6A1 Helen Brittain marked COL6A1 as ready
Congenital myopathy MTM1 Helen Brittain marked MTM1 as ready
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as green
Congenital myopathy STIM2 Helen Brittain marked STIM2 as ready
Congenital myopathy STIM2 Helen Brittain classified STIM2 as red
Congenital myopathy MYH8 Helen Brittain marked MYH8 as ready
Congenital myopathy MYH8 Helen Brittain classified MYH8 as green
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as green
Congenital myopathy DMPK Helen Brittain marked DMPK as ready
Congenital myopathy SPEG Helen Brittain marked SPEG as ready
Congenital myopathy SPEG Helen Brittain classified SPEG as green
Congenital myopathy SPEG Helen Brittain added SPEG to panel
Congenital myopathy SPEG Helen Brittain reviewed SPEG
Congenital myopathy LMOD3 Helen Brittain marked LMOD3 as ready
Congenital myopathy LMOD3 Helen Brittain classified LMOD3 as green
Congenital myopathy LMOD3 Helen Brittain marked LMOD3 as ready
Congenital myopathy LMOD3 Helen Brittain added LMOD3 to panel
Congenital myopathy LMOD3 Helen Brittain reviewed LMOD3
Congenital myopathy DMPK Helen Brittain added DMPK to panel
Congenital myopathy DMPK Helen Brittain reviewed DMPK
Congenital myopathy HRAS Helen Brittain marked HRAS as ready
Congenital myopathy HRAS Helen Brittain classified HRAS as red
Congenital myopathy TTN Helen Brittain marked TTN as ready
Congenital myopathy TTN Helen Brittain classified TTN as green
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy SLC25A4 Helen Brittain classified SLC25A4 as green
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as red
Congenital myopathy RBCK1 Helen Brittain marked RBCK1 as ready
Congenital myopathy RBCK1 Helen Brittain classified RBCK1 as red
Congenital myopathy TNNT3 Helen Brittain marked TNNT3 as ready
Congenital myopathy TNNI2 Helen Brittain marked TNNI2 as ready
Congenital myopathy TIA1 Helen Brittain marked TIA1 as ready
Congenital myopathy STIM2 Helen Brittain marked STIM2 as ready
Congenital myopathy STAC3 Helen Brittain marked STAC3 as ready
Congenital myopathy STAC3 Helen Brittain classified STAC3 as red
Congenital myopathy SLC25A42 Helen Brittain marked SLC25A42 as ready
Congenital myopathy SLC25A42 Helen Brittain classified SLC25A42 as red
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy ORAI1 Helen Brittain classified ORAI1 as green
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy MYH8 Helen Brittain marked MYH8 as ready
Congenital myopathy MYH14 Helen Brittain marked MYH14 as ready
Congenital myopathy MYBPC1 Helen Brittain marked MYBPC1 as ready
Congenital myopathy MT-TL1 Helen Brittain marked MT-TL1 as ready
Congenital myopathy MICU1 Helen Brittain marked MICU1 as ready
Congenital myopathy MICU1 Helen Brittain classified MICU1 as green
Congenital myopathy KLHL41 Helen Brittain marked KLHL41 as ready
Congenital myopathy KLHL41 Helen Brittain classified KLHL41 as green
Congenital myopathy KLHL40 Helen Brittain marked KLHL40 as ready
Congenital myopathy KLHL40 Helen Brittain classified KLHL40 as green
Congenital myopathy KLHL40 Helen Brittain marked KLHL40 as ready
Congenital myopathy ISCU Helen Brittain marked ISCU as ready
Congenital myopathy HNRNPA1 Helen Brittain marked HNRNPA1 as ready
Congenital myopathy GFER Helen Brittain marked GFER as ready
Congenital myopathy FLNC Helen Brittain marked FLNC as ready
Congenital myopathy FKBP14 Helen Brittain marked FKBP14 as ready
Congenital myopathy FKBP14 Helen Brittain classified FKBP14 as green
Congenital myopathy FAM111B Helen Brittain marked FAM111B as ready
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy DYSF Helen Brittain marked DYSF as ready
Congenital myopathy DNAJB6 Helen Brittain marked DNAJB6 as ready
Congenital myopathy CPT2 Helen Brittain marked CPT2 as ready
Congenital myopathy COL9A3 Helen Brittain marked COL9A3 as ready
Congenital myopathy COL9A3 Helen Brittain classified COL9A3 as red
Congenital myopathy CNTN1 Helen Brittain marked CNTN1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as red
Congenital myopathy CHCHD10 Helen Brittain marked CHCHD10 as ready
Congenital myopathy CHCHD10 Helen Brittain classified CHCHD10 as red
Congenital myopathy CCDC78 Helen Brittain marked CCDC78 as ready
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as red
Congenital myopathy CAV3 Helen Brittain marked CAV3 as ready
Congenital myopathy YARS2 Helen Brittain marked YARS2 as ready
Congenital myopathy YARS2 Helen Brittain classified YARS2 as red
Congenital myopathy VCP Helen Brittain marked VCP as ready
Congenital myopathy VCP Helen Brittain classified VCP as red
Congenital myopathy STIM1 Helen Brittain marked STIM1 as ready
Congenital myopathy STIM1 Helen Brittain classified STIM1 as green
Congenital myopathy SEPN1 Helen Brittain marked SEPN1 as ready
Congenital myopathy SEPN1 Helen Brittain classified SEPN1 as green
Congenital myopathy RYR1 Helen Brittain marked RYR1 as ready
Congenital myopathy RYR1 Helen Brittain classified RYR1 as green
Congenital myopathy PUS1 Helen Brittain marked PUS1 as ready
Congenital myopathy PUS1 Helen Brittain classified PUS1 as red
Congenital myopathy PNPLA2 Helen Brittain marked PNPLA2 as ready
Congenital myopathy PNPLA2 Helen Brittain classified PNPLA2 as red
Congenital myopathy MYOT Helen Brittain marked MYOT as ready
Congenital myopathy MYOT Helen Brittain classified MYOT as red
Congenital myopathy MYF6 Helen Brittain marked MYF6 as ready
Congenital myopathy MYF6 Helen Brittain classified MYF6 as red
Congenital myopathy MEGF10 Helen Brittain marked MEGF10 as ready
Congenital myopathy MEGF10 Helen Brittain classified MEGF10 as green
Congenital myopathy MATR3 Helen Brittain marked MATR3 as ready
Congenital myopathy MATR3 Helen Brittain classified MATR3 as red
Congenital myopathy LDB3 Helen Brittain marked LDB3 as ready
Congenital myopathy LDB3 Helen Brittain classified LDB3 as red
Congenital myopathy GNE Helen Brittain marked GNE as ready
Congenital myopathy GNE Helen Brittain classified GNE as red
Congenital myopathy CRYAB Helen Brittain marked CRYAB as ready
Congenital myopathy CRYAB Helen Brittain classified CRYAB as red
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as red
Congenital myopathy TPM3 Helen Brittain marked TPM3 as ready
Congenital myopathy TPM3 Helen Brittain classified TPM3 as green
Congenital myopathy TPM2 Helen Brittain marked TPM2 as ready
Congenital myopathy TNNT1 Helen Brittain marked TNNT1 as ready
Congenital myopathy NEB Helen Brittain marked NEB as ready
Congenital myopathy MYH7 Helen Brittain marked MYH7 as ready
Congenital myopathy MYH2 Helen Brittain marked MYH2 as ready
Congenital myopathy MYH2 Helen Brittain marked MYH2 as ready
Congenital myopathy MTM1 Helen Brittain marked MTM1 as ready
Congenital myopathy KBTBD13 Helen Brittain marked KBTBD13 as ready
Congenital myopathy DNM2 Helen Brittain marked DNM2 as ready
Congenital myopathy DES Helen Brittain marked DES as ready
Congenital myopathy DES Helen Brittain classified DES as red
Congenital myopathy COL6A3 Helen Brittain marked COL6A3 as ready
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myopathy COL6A1 Helen Brittain marked COL6A1 as ready
Congenital myopathy CFL2 Helen Brittain marked CFL2 as ready
Congenital myopathy CFL2 Helen Brittain classified CFL2 as green
Congenital myopathy BIN1 Helen Brittain marked BIN1 as ready
Congenital myopathy ATP2A1 Helen Brittain marked ATP2A1 as ready
Congenital myopathy ATP2A1 Helen Brittain classified ATP2A1 as red
Congenital myopathy ACTA1 Ellen McDonagh marked ACTA1 as ready
Congenital myopathy TNNT3 Helen Brittain reviewed TNNT3
Congenital myopathy TNNI2 Helen Brittain reviewed TNNI2
Congenital myopathy TIA1 Helen Brittain reviewed TIA1
Congenital myopathy STIM2 Helen Brittain reviewed STIM2
Congenital myopathy STAC3 Helen Brittain reviewed STAC3
Congenital myopathy SLC25A42 Helen Brittain reviewed SLC25A42
Congenital myopathy SLC25A4 Helen Brittain reviewed SLC25A4
Congenital myopathy RBCK1 Helen Brittain reviewed RBCK1
Congenital myopathy ORAI1 Helen Brittain reviewed ORAI1
Congenital myopathy MYH8 Helen Brittain reviewed MYH8
Congenital myopathy MYH3 Helen Brittain reviewed MYH3
Congenital myopathy MYH14 Helen Brittain reviewed MYH14
Congenital myopathy MYBPC1 Helen Brittain reviewed MYBPC1
Congenital myopathy MT-TL1 Helen Brittain reviewed MT-TL1
Congenital myopathy MICU1 Helen Brittain reviewed MICU1
Congenital myopathy KLHL41 Helen Brittain reviewed KLHL41
Congenital myopathy KLHL40 Helen Brittain reviewed KLHL40
Congenital myopathy ISCU Helen Brittain reviewed ISCU
Congenital myopathy HRAS Helen Brittain reviewed HRAS
Congenital myopathy HNRNPA1 Helen Brittain reviewed HNRNPA1
Congenital myopathy GFER Helen Brittain reviewed GFER
Congenital myopathy FLNC Helen Brittain reviewed FLNC
Congenital myopathy FKBP14 Helen Brittain reviewed FKBP14
Congenital myopathy FAM111B Helen Brittain reviewed FAM111B
Congenital myopathy ECEL1 Helen Brittain reviewed ECEL1
Congenital myopathy DYSF Helen Brittain reviewed DYSF
Congenital myopathy DNAJB6 Helen Brittain reviewed DNAJB6
Congenital myopathy CPT2 Helen Brittain reviewed CPT2
Congenital myopathy COL9A3 Helen Brittain reviewed COL9A3
Congenital myopathy CNTN1 Helen Brittain reviewed CNTN1
Congenital myopathy CHCHD10 Helen Brittain reviewed CHCHD10
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78
Congenital myopathy CAV3 Helen Brittain reviewed CAV3
Congenital myopathy YARS2 Helen Brittain reviewed YARS2
Congenital myopathy VCP Helen Brittain reviewed VCP
Congenital myopathy STIM1 Helen Brittain reviewed STIM1
Congenital myopathy SEPN1 Helen Brittain reviewed SEPN1
Congenital myopathy RYR1 Helen Brittain reviewed RYR1
Congenital myopathy PUS1 Helen Brittain reviewed PUS1
Congenital myopathy PNPLA2 Helen Brittain reviewed PNPLA2
Congenital myopathy MYOT Helen Brittain reviewed MYOT
Congenital myopathy MYF6 Helen Brittain reviewed MYF6
Congenital myopathy MEGF10 Helen Brittain reviewed MEGF10
Congenital myopathy MATR3 Helen Brittain reviewed MATR3
Congenital myopathy LDB3 Helen Brittain reviewed LDB3
Congenital myopathy GNE Helen Brittain reviewed GNE
Congenital myopathy CRYAB Helen Brittain reviewed CRYAB
Congenital myopathy BAG3 Helen Brittain reviewed BAG3
Congenital myopathy TTN Helen Brittain reviewed TTN
Congenital myopathy TPM3 Helen Brittain reviewed TPM3
Congenital myopathy TPM2 Helen Brittain reviewed TPM2
Congenital myopathy TNNT1 Helen Brittain reviewed TNNT1
Congenital myopathy NEB Helen Brittain reviewed NEB
Congenital myopathy MYH7 Helen Brittain reviewed MYH7
Congenital myopathy MYH2 Helen Brittain reviewed MYH2
Congenital myopathy MTM1 Helen Brittain reviewed MTM1
Congenital myopathy KBTBD13 Helen Brittain reviewed KBTBD13
Congenital myopathy DNM2 Helen Brittain reviewed DNM2
Congenital myopathy DES Helen Brittain reviewed DES
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2
Congenital myopathy COL6A3 Helen Brittain reviewed COL6A3
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2
Congenital myopathy COL6A1 Helen Brittain reviewed COL6A1
Congenital myopathy CFL2 Helen Brittain reviewed CFL2
Congenital myopathy BIN1 Helen Brittain reviewed BIN1
Congenital myopathy ATP2A1 Helen Brittain reviewed ATP2A1
Congenital myopathy ACTA1 Helen Brittain commented on ACTA1
Congenital myopathy ACTA1 Helen Brittain reviewed ACTA1
Congenital myopathy SEPN1 Louise Daugherty commented on SEPN1
Congenital myopathy SLC25A4 Ellen McDonagh added SLC25A4 to panel
Congenital myopathy SLC25A4 Ellen McDonagh reviewed SLC25A4
Congenital myopathy SLC25A42 Ellen McDonagh added SLC25A42 to panel
Congenital myopathy SLC25A42 Ellen McDonagh reviewed SLC25A42