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Congenital myopathy v6.44 MYMX Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619941) and the OMIM record was last accessed on 18 December 2025.
Congenital myopathy v6.42 TNNI1 Achchuthan Shanmugasundram Source Expert Review Green was added to TNNI1.
Source NHS GMS was added to TNNI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.42 SRPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to SRPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.42 RFC4 Achchuthan Shanmugasundram Source Expert Review Green was added to RFC4.
Source NHS GMS was added to RFC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.42 MYMX Achchuthan Shanmugasundram Source Expert Review Green was added to MYMX.
Source NHS GMS was added to MYMX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.42 MT-TW Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TW.
Source NHS GMS was added to MT-TW.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.42 MT-TN Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TN.
Source NHS GMS was added to MT-TN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.42 MT-TL1 Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TL1.
Source NHS GMS was added to MT-TL1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.42 MT-TK Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TK.
Source NHS GMS was added to MT-TK.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.42 MT-TE Achchuthan Shanmugasundram Source Expert Review Red was added to MT-TE.
Source NHS GMS was added to MT-TE.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v6.42 CIAO1 Achchuthan Shanmugasundram Source Expert Review Green was added to CIAO1.
Source NHS GMS was added to CIAO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v6.38 PNPLA2 Ida Ertmanska changed review comment from: Biallelic mutations in PNPLA2 are associated with Neutral lipid-storage disease with myopathy, OMIM:610717 (NLSDM) - phenotype accessed 30th Oct 2025).

PMID: 37620213 Fu et al., 2023 - literature review
11 childhood-onset and 82 adult-onset patients; only 6/11 childhood onset patients presented with muscle weakness. NLSDM is often diagnosed by presence of Jordan's anomaly on a peripheral blood smear and elevated CK - some cases asymptomatic until later life. Age of disease onset in the childhood cases ranged from shortly after birth to 11yo. However, the onset of myopathy occurred several years after the initial symptoms in all individuals (between 3-33 years after initial symptoms).; to: Biallelic mutations in PNPLA2 are associated with Neutral lipid-storage disease with myopathy, OMIM:610717 (NLSDM) - phenotype accessed 30th Oct 2025).

PMID: 37620213 Fu et al., 2023 - literature review
11 childhood-onset and 82 adult-onset patients; only 6/11 childhood onset patients presented with muscle weakness. NLSDM is often diagnosed by presence of Jordan's anomaly on a peripheral blood smear and elevated CK - some cases asymptomatic until later life. Age of disease onset in the childhood cases ranged from shortly after birth to 11yo. However, the onset of myopathy occurred several years after the initial symptoms in all individuals (between 3-33 years after initial symptoms).

PNPLA2 is already Green on the Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies panel.
Congenital myopathy v6.36 DST Eleanor Williams Classified gene: DST as Amber List (moderate evidence)
Congenital myopathy v6.36 DST Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating following GMS review since there are sufficient cases with plausible disease causing variants and an appropriate phenotype.
Congenital myopathy v6.36 DST Eleanor Williams Gene: dst has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.35 VWA1 Anna Sarkozy reviewed gene: VWA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:39502942, PMID: 33459760; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v6.35 SRPK3 Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).; to: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the panel as Green (no evidence for monogenic association).
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Classified gene: SRPK3 as Amber List (moderate evidence)
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).
Congenital myopathy v6.35 SRPK3 Arina Puzriakova Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.34 MT-TP Achchuthan Shanmugasundram Classified gene: MT-TP as Amber List (moderate evidence)
Congenital myopathy v6.34 MT-TP Achchuthan Shanmugasundram Gene: mt-tp has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.31 MT-TP Achchuthan Shanmugasundram reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: None; Publications: 7689388, 32305257; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram changed review comment from: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.; to: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.

In summary, there are no cases reported with onset of myopathy in infancy. However, it appears that there is one family with myopathy since early childhood. The other reported cases developed myopathy later in life.
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram Classified gene: MT-TA as Amber List (moderate evidence)
Congenital myopathy v6.31 MT-TA Achchuthan Shanmugasundram Gene: mt-ta has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram changed review comment from: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.; to: PMID:17825557 - One family reported with predominantly proximal myopathy, with the onset of symptoms around five years, six years and 53 years in three affected individuals. They were identified with m.5650G>A pathogenic variant in MT-TA gene.

MitoPhen (https://www.mitophen.org) also reported patients from PMID:11715067 and PMID:14569122 with myopathy.

PMID:11715067 - A 53 year old patient was reported with CADASIL and myopathy. He was identified with a NOTCH3 variant, responsible for CADASIL. He was also identified with m.5650G>A variant. This variant was also present to a lower extent in the unaffected sister of the patient.

PMID:14569122 - A 38-year-old patient was first reported with weakness during regular exercise at 14 years of age, and then with slowly progressive proximal muscle weakness and atrophy of the lower limbs. He was also identified with the same m.5650G>A variant.
Congenital myopathy v6.28 MT-TA Achchuthan Shanmugasundram reviewed gene: MT-TA: Rating: AMBER; Mode of pathogenicity: None; Publications: 17825557; Phenotypes: inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.28 MT-TE Achchuthan Shanmugasundram Classified gene: MT-TE as Amber List (moderate evidence)
Congenital myopathy v6.28 MT-TE Achchuthan Shanmugasundram Gene: mt-te has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.25 MT-TE Achchuthan Shanmugasundram reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: None; Publications: 7726155, 10392369, 15607216, 21194154; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.25 MT-TG Achchuthan Shanmugasundram Classified gene: MT-TG as Amber List (moderate evidence)
Congenital myopathy v6.25 MT-TG Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated patients reported with m.10010T>C variant and with myopathy as part of the presenting phenotype. Hence, this gene is rated amber.
Congenital myopathy v6.25 MT-TG Achchuthan Shanmugasundram Gene: mt-tg has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.22 MT-TG Achchuthan Shanmugasundram reviewed gene: MT-TG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11971101, 16120360; Phenotypes: mitochondrial encephalomyopathy, MONDO:0004675; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.22 MT-TN Achchuthan Shanmugasundram Classified gene: MT-TN as Amber List (moderate evidence)
Congenital myopathy v6.22 MT-TN Achchuthan Shanmugasundram Gene: mt-tn has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.19 MT-TW Achchuthan Shanmugasundram Classified gene: MT-TW as Amber List (moderate evidence)
Congenital myopathy v6.19 MT-TW Achchuthan Shanmugasundram Gene: mt-tw has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.16 MT-TW Achchuthan Shanmugasundram reviewed gene: MT-TW: Rating: AMBER; Mode of pathogenicity: None; Publications: 9673981, 23841600; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.16 MT-TK Achchuthan Shanmugasundram Classified gene: MT-TK as Amber List (moderate evidence)
Congenital myopathy v6.16 MT-TK Achchuthan Shanmugasundram Gene: mt-tk has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.13 MT-TK Achchuthan Shanmugasundram reviewed gene: MT-TK: Rating: AMBER; Mode of pathogenicity: None; Publications: 1463006, 8228033; Phenotypes: MERRF syndrome, MONDO:0010790, inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence)
Congenital myopathy v6.13 MT-TL1 Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v6.10 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 8122892, 8559168, 18391161; Phenotypes: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, inborn mitochondrial myopathy, MONDO:0009637; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.10 MT-TP Katherine Schon reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: Other; Publications: 7689388, 32305257; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.10 MT-TA Katherine Schon reviewed gene: MT-TA: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17825557; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Congenital myopathy v6.2 TNNI1 Arina Puzriakova Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7
Congenital myopathy v6.2 TNNI1 Arina Puzriakova gene: TNNI1 was added
gene: TNNI1 was added to Congenital myopathy. Sources: Literature,Expert Review Amber
Q2_25_ promote_green tags were added to gene: TNNI1.
Mode of inheritance for gene: TNNI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TNNI1 were set to 38569017; 34934811
Phenotypes for gene: TNNI1 were set to Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease
Congenital myopathy v5.13 VWA1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene should remain amber on this panel based on recommendation by Anna Sarkozy. Her recommendation is based on evidence from new publications on this gene and associated phenotype, which is summarised in the review, PMID:39502942.

The recommendation from the NHS Genomic Medicine Service is as below:
The myopathic nature of the conditions associated with this gene remains controversial and currently there doesn't appear to be sufficient evidence to consider VWA1-related disorder as a myopathy. Therefore this gene-condition is out of scope of this Clinical Indication and at most should remain amber.; to: The rating of this gene should remain amber on this panel based on recommendation by Anna Sarkozy. Her recommendation is based on evidence from new publications on this gene and associated phenotype, which is summarised in the review, PMID:39502942.

The recommendation from the NHS Genomic Medicine Service is as below:
The myopathic nature of the conditions associated with this gene remains controversial and currently there doesn't appear to be sufficient evidence to consider VWA1-related disorder as a myopathy. Therefore this gene-condition is out of scope of this Clinical Indication and at most should remain amber.
Congenital myopathy v5.13 VWA1 Achchuthan Shanmugasundram Classified gene: VWA1 as Amber List (moderate evidence)
Congenital myopathy v5.13 VWA1 Achchuthan Shanmugasundram Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.
Congenital myopathy v5.13 VWA1 Achchuthan Shanmugasundram Gene: vwa1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v5.12 VWA1 Achchuthan Shanmugasundram commented on gene: VWA1: The rating of this gene should remain amber on this panel based on recommendation by Anna Sarkozy. Her recommendation is based on evidence from new publications on this gene and associated phenotype, which is summarised in the review, PMID:39502942.

The recommendation from the NHS Genomic Medicine Service is as below:
The myopathic nature of the conditions associated with this gene remains controversial and currently there doesn't appear to be sufficient evidence to consider VWA1-related disorder as a myopathy. Therefore this gene-condition is out of scope of this Clinical Indication and at most should remain amber.
Congenital myopathy v5.12 VWA1 Achchuthan Shanmugasundram reviewed gene: VWA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39502942; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v5.12 MB Achchuthan Shanmugasundram Classified gene: MB as Red List (low evidence)
Congenital myopathy v5.12 MB Achchuthan Shanmugasundram Gene: mb has been classified as Red List (Low Evidence).
Congenital myopathy v5.11 MB Achchuthan Shanmugasundram Classified gene: MB as Amber List (moderate evidence)
Congenital myopathy v5.11 MB Achchuthan Shanmugasundram Added comment: Comment on list classification: As the disease onset is typically during adulthood, this gene should be rated red with current evidence.
Congenital myopathy v5.11 MB Achchuthan Shanmugasundram Gene: mb has been classified as Amber List (Moderate Evidence).
Congenital myopathy v5.10 MB Achchuthan Shanmugasundram Phenotypes for gene: MB were changed from to Myopathy, sarcoplasmic body, OMIM:620286
Congenital myopathy v5.9 MB Achchuthan Shanmugasundram Mode of inheritance for gene: MB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v5.8 MB Achchuthan Shanmugasundram reviewed gene: MB: Rating: RED; Mode of pathogenicity: None; Publications: 30918256, 34679218, 35527200; Phenotypes: Myopathy, sarcoplasmic body, OMIM:620286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v5.8 MYMX Achchuthan Shanmugasundram Classified gene: MYMX as Amber List (moderate evidence)
Congenital myopathy v5.8 MYMX Achchuthan Shanmugasundram Gene: mymx has been classified as Amber List (Moderate Evidence).
Congenital myopathy v5.3 VWA1 Arina Puzriakova Source NHS GMS was added to VWA1.
Source Expert Review Green was added to VWA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v5.1 MB Zornitza Stark reviewed gene: MB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v5.1 MB Cassandra Smith gene: MB was added
gene: MB was added to Congenital myopathy. Sources: Other
Mode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MB were set to 30918256; 35527200; 34679218
Review for gene: MB was set to GREEN
Added comment: Seven unrelated families reported in the literature with the same His98Tyr variant, with haplotype analysis for six of these families suggesting a recurrent variant on different backgrounds.
Sources: Other
Congenital myopathy v4.44 RFC4 Achchuthan Shanmugasundram Classified gene: RFC4 as Amber List (moderate evidence)
Congenital myopathy v4.44 RFC4 Achchuthan Shanmugasundram Gene: rfc4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber was removed from gene: CCDC78.
Tag Q4_22_expert_review was removed from gene: CCDC78.
Congenital myopathy v4.42 GFER Achchuthan Shanmugasundram reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v4.42 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v4.41 ZC4H2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZC4H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 UNC45B Achchuthan Shanmugasundram Source Expert Review Green was added to UNC45B.
Source NHS GMS was added to UNC45B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 TRDN Achchuthan Shanmugasundram Source Expert Review Green was added to TRDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 SPTBN4 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTBN4.
Source NHS GMS was added to SPTBN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 MLIP Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP.
Source NHS GMS was added to MLIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 LETM1 Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 KY Achchuthan Shanmugasundram Source Expert Review Green was added to KY.
Source NHS GMS was added to KY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 GBE1 Achchuthan Shanmugasundram Source Expert Review Green was added to GBE1.
Source NHS GMS was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 DNAJB4 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJB4.
Source NHS GMS was added to DNAJB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Source NHS GMS was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Source NHS GMS was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.41 CCDC78 Achchuthan Shanmugasundram Source Expert Review Amber was added to CCDC78.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Congenital myopathy v4.41 ASCC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ASCC1.
Source NHS GMS was added to ASCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital myopathy v4.40 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Congenital myopathy v4.40 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Congenital myopathy. Sources: Expert Review Amber,Literature
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
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 v4.30 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 TRDN Achchuthan Shanmugasundram Classified gene: TRDN as Amber List (moderate evidence)
Congenital myopathy v4.29 TRDN Achchuthan Shanmugasundram Gene: trdn has been classified as Amber List (Moderate Evidence).
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 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 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 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 v4.15 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 v4.12 DNAJB4 Achchuthan Shanmugasundram Classified gene: DNAJB4 as Amber List (moderate evidence)
Congenital myopathy v4.12 DNAJB4 Achchuthan Shanmugasundram Gene: dnajb4 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v4.9 COL25A1 Achchuthan Shanmugasundram Classified gene: COL25A1 as Amber List (moderate evidence)
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 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 v4.5 ASCC1 Achchuthan Shanmugasundram Classified gene: ASCC1 as Amber List (moderate evidence)
Congenital myopathy v4.5 ASCC1 Achchuthan Shanmugasundram Gene: ascc1 has been classified as Amber List (Moderate Evidence).
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 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 v3.98 SPTBN4 Arina Puzriakova Classified gene: SPTBN4 as Amber List (moderate evidence)
Congenital myopathy v3.98 SPTBN4 Arina Puzriakova Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
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 v3.34 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 v3.26 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 v3.13 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 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 Gene: ky has been classified as Amber List (Moderate Evidence).
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 v3.4 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 CCDC78 Achchuthan Shanmugasundram Tag Q4_22_demote_amber tag was added to gene: CCDC78.
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 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 v2.90 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 v2.87 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 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 v2.83 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 Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.82 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
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 v2.75 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 v2.73 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 v2.56 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 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 Gene: ascc3 has been classified as Amber List (Moderate Evidence).
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 v2.46 MYOD1 Ivone Leong Classified gene: MYOD1 as Amber List (moderate evidence)
Congenital myopathy v2.46 MYOD1 Ivone Leong Gene: myod1 has been classified as Amber List (Moderate Evidence).
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 v2.33 MYL2 Ivone Leong Classified gene: MYL2 as Amber List (moderate evidence)
Congenital myopathy v2.33 MYL2 Ivone Leong Gene: myl2 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.19 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.19 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.18 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.18 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.13 HNRNPA2B1 Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Congenital myopathy v2.13 HNRNPA2B1 Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
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 v2.7 SVIL Sarah Leigh Classified gene: SVIL as Amber List (moderate evidence)
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 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 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 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 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 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 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 v1.228 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 v1.226 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 v1.225 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 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 v1.224 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 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 v1.223 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 v1.217 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 v1.212 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 v1.201 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 v1.198 CCDC78 Louise Daugherty commented on gene: CCDC78: Remain Amber unless further evidence supplied by GLH
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 v1.191 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 v1.190 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 v1.182 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 v1.181 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 v1.177 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 v1.174 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 v1.169 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 v1.166 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 v1.163 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 v1.149 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 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 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 v1.120 TNNC2 Rachael Mein edited their review of gene: TNNC2: Changed rating: AMBER; Changed phenotypes: congenital myopathy
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 ACTN2 Rachael Mein edited their review of gene: ACTN2: Changed rating: AMBER; Changed phenotypes: Multiple structured Core Disease
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 v1.76 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 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 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 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 v1.62 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Congenital myopathy VPS33B Helen Brittain classified VPS33B as amber
Congenital myopathy LAMP2 Helen Brittain classified LAMP2 as amber
Congenital myopathy CASQ1 Helen Brittain classified CASQ1 as amber
Congenital myopathy NEFL Helen Brittain classified NEFL as amber
Congenital myopathy MYPN Helen Brittain classified MYPN as amber
Congenital myopathy MYL1 Helen Brittain classified MYL1 as amber
Congenital myopathy MYBPC3 Helen Brittain classified MYBPC3 as amber
Congenital myopathy MTMR14 Helen Brittain classified MTMR14 as amber
Congenital myopathy KY Helen Brittain classified KY as amber
Congenital myopathy HACD1 Helen Brittain classified HACD1 as amber
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as amber
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as amber