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Distal myopathies v6.16 SPTAN1 Ida Ertmanska Classified gene: SPTAN1 as Amber List (moderate evidence)
Distal myopathies v6.16 SPTAN1 Ida Ertmanska Added comment: Comment on list classification: 14 unrelated families with SPTAN1-related distal myopathy have been reported in literature, harbouring heterozygous LoF variants in SPTAN1. Myopathy of lower limbs was accompanied by gait disturbance and feet abnormalities. Based on available evidence, this gene should be promoted to Green at the next update.
Distal myopathies v6.16 SPTAN1 Ida Ertmanska Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v6.15 SPTAN1 Ida Ertmanska gene: SPTAN1 was added
gene: SPTAN1 was added to Distal myopathies. Sources: Literature
Q1_26_promote_green tags were added to gene: SPTAN1.
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 40023774; 40999194
Phenotypes for gene: SPTAN1 were set to distal myopathy, MONDO:0018949
Review for gene: SPTAN1 was set to GREEN
Added comment: PMID: 40023774 De Winter et al., 2025
Report of 14 families with heterozygous LoF SPTAN1 variants and early-onset distal myopathy (9x de novo and 5x dominantly inherited). Exome seq detected 9 frameshift, 4 nonsense, and 1 splice-acceptor variant in SPTAN1. Individuals presented with gait disturbance and foot abnormalities, including pes cavus and distal arthrogryposis. Muscle biopsy revealed myopathic changes in 7 patients.

PMID: 40999194 Van de Vondel et al., 2026
Report a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene (method: Exome seq). The deletion segregated with disease in 4 individuals, and was non-penetrant in two. Affected individuals presented with distal weakness in lower limbs (4/4) as well as pes cavus and hammer toes (2/4) or Distal arthrogryposis (2/4). Electromyography, muscle MRI and muscle biopsy showed myopathic disease.
The deletion encompasses SPTAN1, DYNC2I2, and a part of GLE1. Authors pose that SPTAN1 deletion is responsible for disease, as DYNC2I2 and GLE1 are not predicted to be dosage sensitive. However, the effect of other genes being deleted cannot be decoupled.

SPTAN1 is not yet associated with distal myopathy in OMIM (accessed 10th Feb 2026).
Sources: Literature
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska edited their review of gene: HNRNPA1: Changed publications to: 34291734, 34722876, 35550112, 39072769
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska changed review comment from: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

PMID: 34291734 Beijer et al., 2021
Family A - de novo c.908-2A>G, (p.G304Nfs*3) - exon skipping resulting in a truncated protein. Polish male with an axonal motor-predominant neuropathy (onset at 15yo).
Family B - c.1018C>G, p.Pro340Ala - Moroccan female with slowly-progressive juvenile-onset ALS (onset around 20yo) - method: WES
Family C - c.1117T>G; p.*373Gluext*6 - myopathy with distal and facial onset and severe proximal and bulbar weakness upon progression; Dutch, mother and son affected; onset at 8-9yo - seq method: WGS.
Family D - 500bp deletion, p.G304Nfs*3 - Asian Indian female, onset at 22yo; distal myopathy, facial weakness; method: Trio WGS.
Family E - c.941A>T, p.Asp314Val - American male, with onset at 36 yo, affected mother; chronic myopathy with rimmed vacuoles, diagnosed with inclusion body myositis; seq method: WES.
Family F - c.1117T>C, p.*373Glnext*6 - seq method: unknown. Male Belgian patient diagnosed with distal myopathy of Welander or Nonaka type, onset at 12yo.

PMID: 34722876 Hackman et al., 2021
Large Finnish family with adult-onset autosomal dominant distal myopathy (8 individuals affected, onset at 32-45 yo). Hand weakness and stumbling on the feet were the first symptoms. Affected individuals het for a 160 bp deletion in exon 10 of HNRNPA1 (hg19: chr12:54677979-54678138) - aberrant transcript is predicted to result in the mutant protein p.Gly356Asnfs*4.
; to: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

PMID: 34291734 Beijer et al., 2021
Family A - de novo c.908-2A>G, (p.G304Nfs*3) - exon skipping resulting in a truncated protein. Polish male with an axonal motor-predominant neuropathy (onset at 15yo).
Family B - c.1018C>G, p.Pro340Ala - Moroccan female with slowly-progressive juvenile-onset ALS (onset around 20yo) - method: WES
Family C - c.1117T>G; p.*373Gluext*6 - myopathy with distal and facial onset and severe proximal and bulbar weakness upon progression; Dutch, mother and son affected; onset at 8-9yo - seq method: WGS.
Family D - 500bp deletion, p.G304Nfs*3 - Asian Indian female, onset at 22yo; distal myopathy, facial weakness; method: Trio WGS.
Family E - c.941A>T, p.Asp314Val - American male, with onset at 36 yo, affected mother; chronic myopathy with rimmed vacuoles, diagnosed with inclusion body myositis; seq method: WES.
Family F - c.1117T>C, p.*373Glnext*6 - seq method: unknown. Male Belgian patient diagnosed with distal myopathy of Welander or Nonaka type, onset at 12yo.

PMID: 34722876 Hackman et al., 2021
Large Finnish family with adult-onset autosomal dominant distal myopathy (8 individuals affected, onset at 32-45 yo). Hand weakness and stumbling on the feet were the first symptoms. Affected individuals het for a 160 bp deletion in exon 10 of HNRNPA1 (hg19: chr12:54677979-54678138) - aberrant transcript is predicted to result in the mutant protein p.Gly356Asnfs*4.

HNRNPA1 is associated with AD Amyotrophic lateral sclerosis 20, OMIM:615426, as well as provisionally linked to AD Myopathy, distal, 3, OMIM:610099 and Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 (OMIM accessed 30th Oct 2025).
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska commented on gene: HNRNPA1: Comment on list classification: There are at least 7 unrelated individuals reported in literature with monoallelic variants in HNRNPA1 that presented with distal myopathy. Disease onset is either juvenile or in early adulthood. The affected individuals harboured stop-loss, missense, and frameshift variants, either de novo or shown to segregated with disease in an autosomal dominant manner. Other variants in this gene have been reported as causal for juvenile-onset ALS, multisystem proteinopathy, and distal hereditary motor neuropathy. There is currently little to no correlation between the location of the causative variant and the corresponding phenotype, and no precise understanding of the different disease mechanisms. Nonetheless, there is sufficient evidence for this gene-disease relationship. HNRNPA1 should be promoted to Green for Distal myopathies at the next GMS update.
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska changed review comment from: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

PMID: 34291734 Beijer et al., 2021
Family A - de novo c.908-2A>G, (p.G304Nfs*3) - exon skipping resulting in a truncated protein. Polish male with an axonal motor-predominant neuropathy (onset at 15yo).
Family B - c.1018C>G, p.Pro340Ala - Moroccan female with slowly-progressive juvenile-onset ALS (onset around 20yo) - method: WES
Family C - c.1117T>G; p.*373Gluext*6 - myopathy with distal and facial onset and severe proximal and bulbar weakness upon progression; Dutch, mother and son affected; onset at 8-9yo - seq method: WGS.
Family D - 500bp deletion, p.G304Nfs*3 - Asian Indian female, onset at 22yo; distal myopathy, facial weakness; method: Trio WGS.
Family E - c.941A>T, p.Asp314Val - American male, with onset at 36 yo, affected mother; chronic myopathy with rimmed vacuoles, diagnosed with inclusion body myositis; seq method: WES.
Family F - c.1117T>C, p.*373Glnext*6 - seq method: unknown. Male Belgian patient diagnosed with distal myopathy of Welander or Nonaka type, onset at 12yo.

PMID: 34722876 Hackman et al., 2021
Large Finnish family with adult-onset autosomal dominant distal myopathy (8 individuals affected, onset at 32-45 yo). Hand weakness and stumbling on the feet were the first symptoms. Affected individuals het for a 160 bp deletion in exon 10 of HNRNPA1 (hg19: chr12:54677979-54678138) - aberrant transcript is predicted to result in the mutant protein p.Gly356Asnfs*4.
Sources: Other; to: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

PMID: 34291734 Beijer et al., 2021
Family A - de novo c.908-2A>G, (p.G304Nfs*3) - exon skipping resulting in a truncated protein. Polish male with an axonal motor-predominant neuropathy (onset at 15yo).
Family B - c.1018C>G, p.Pro340Ala - Moroccan female with slowly-progressive juvenile-onset ALS (onset around 20yo) - method: WES
Family C - c.1117T>G; p.*373Gluext*6 - myopathy with distal and facial onset and severe proximal and bulbar weakness upon progression; Dutch, mother and son affected; onset at 8-9yo - seq method: WGS.
Family D - 500bp deletion, p.G304Nfs*3 - Asian Indian female, onset at 22yo; distal myopathy, facial weakness; method: Trio WGS.
Family E - c.941A>T, p.Asp314Val - American male, with onset at 36 yo, affected mother; chronic myopathy with rimmed vacuoles, diagnosed with inclusion body myositis; seq method: WES.
Family F - c.1117T>C, p.*373Glnext*6 - seq method: unknown. Male Belgian patient diagnosed with distal myopathy of Welander or Nonaka type, onset at 12yo.

PMID: 34722876 Hackman et al., 2021
Large Finnish family with adult-onset autosomal dominant distal myopathy (8 individuals affected, onset at 32-45 yo). Hand weakness and stumbling on the feet were the first symptoms. Affected individuals het for a 160 bp deletion in exon 10 of HNRNPA1 (hg19: chr12:54677979-54678138) - aberrant transcript is predicted to result in the mutant protein p.Gly356Asnfs*4.
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska Classified gene: HNRNPA1 as Amber List (moderate evidence)
Distal myopathies v6.13 HNRNPA1 Ida Ertmanska Gene: hnrnpa1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v6.12 HNRNPA1 Ida Ertmanska gene: HNRNPA1 was added
gene: HNRNPA1 was added to Distal myopathies. Sources: Other
Q4_25_promote_green tags were added to gene: HNRNPA1.
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA1 were set to 34291734; 34722876; 39072769
Phenotypes for gene: HNRNPA1 were set to Myopathy, distal, 3 , OMIM:610099; distal myopathy, MONDO:0018949
Review for gene: HNRNPA1 was set to GREEN
Added comment: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

PMID: 34291734 Beijer et al., 2021
Family A - de novo c.908-2A>G, (p.G304Nfs*3) - exon skipping resulting in a truncated protein. Polish male with an axonal motor-predominant neuropathy (onset at 15yo).
Family B - c.1018C>G, p.Pro340Ala - Moroccan female with slowly-progressive juvenile-onset ALS (onset around 20yo) - method: WES
Family C - c.1117T>G; p.*373Gluext*6 - myopathy with distal and facial onset and severe proximal and bulbar weakness upon progression; Dutch, mother and son affected; onset at 8-9yo - seq method: WGS.
Family D - 500bp deletion, p.G304Nfs*3 - Asian Indian female, onset at 22yo; distal myopathy, facial weakness; method: Trio WGS.
Family E - c.941A>T, p.Asp314Val - American male, with onset at 36 yo, affected mother; chronic myopathy with rimmed vacuoles, diagnosed with inclusion body myositis; seq method: WES.
Family F - c.1117T>C, p.*373Glnext*6 - seq method: unknown. Male Belgian patient diagnosed with distal myopathy of Welander or Nonaka type, onset at 12yo.

PMID: 34722876 Hackman et al., 2021
Large Finnish family with adult-onset autosomal dominant distal myopathy (8 individuals affected, onset at 32-45 yo). Hand weakness and stumbling on the feet were the first symptoms. Affected individuals het for a 160 bp deletion in exon 10 of HNRNPA1 (hg19: chr12:54677979-54678138) - aberrant transcript is predicted to result in the mutant protein p.Gly356Asnfs*4.
Sources: Other
Distal myopathies v6.11 TIA1 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 23rd October 2025
Distal myopathies v6.11 TIA1 Eleanor Williams Phenotypes for gene: TIA1 were changed from Welander distal myopathy, 604454 to Welander distal myopathy, OMIM:604454; distal myopathy, Welander type, MONDO:0011466
Distal myopathies v6.10 TIA1 Eleanor Williams Publications for gene: TIA1 were set to 23401021
Distal myopathies v6.9 TIA1 Eleanor Williams Added comment: Comment on mode of inheritance: Suggested to change the mode of inheritance to monoallelic only following GMS review.
Distal myopathies v6.9 TIA1 Eleanor Williams Mode of inheritance for gene: TIA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Distal myopathies v6.8 TIA1 Eleanor Williams Tag Q3_25_MOI tag was added to gene: TIA1.
Distal myopathies v6.8 TIA1 Eleanor Williams edited their review of gene: TIA1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Distal myopathies v6.8 TIA1 Eleanor Williams commented on gene: TIA1
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Tag dd_review tag was added to gene: NEB.
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there is sufficient evidence available for the association of monoallelic intragenic deletions in NEB gene with a milder distal myopathy phenotype, the MOI should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Distal myopathies v6.8 NEB Achchuthan Shanmugasundram Mode of inheritance for gene: NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v6.7 NEB Achchuthan Shanmugasundram Phenotypes for gene: NEB were changed from Nemaline myopathy 2, 256030 to Nemaline myopathy 2, OMIM:256030; distal myopathy, MONDO:0018949
Distal myopathies v6.6 NEB Achchuthan Shanmugasundram Publications for gene: NEB were set to 12207937; 30679003; 39474605
Distal myopathies v6.5 NEB Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: NEB.
Distal myopathies v6.5 NEB Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 40517164; Phenotypes: distal myopathy, MONDO:0018949; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Distal myopathies v6.5 Sarah Leigh Panel version 6.4 has been signed off on 2025-04-30
Distal myopathies v6.4 GIPC1_GGC Sarah Leigh STR: GIPC1_GGC was added
STR: GIPC1_GGC was added to Distal myopathies. Sources: Literature
STR, NGS Not Validated tags were added to STR: GIPC1_GGC.
Mode of inheritance for STR: GIPC1_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for STR: GIPC1_GGC were set to 32413282; 33374016
Phenotypes for STR: GIPC1_GGC were set to Oculopharyngodistal myopathy 2, OMIM:618940
Review for STR: GIPC1_GGC was set to GREEN
Added comment: GIPC1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.

GIPC1_GGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3

GIPC1_GGC is on https://stripy.org/database

GIPC1_GGC is on DRAGON 4.02.

The coordinates and pathogenic ranges of the sequence repeats were obtained from
https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and were the same on https://stripy.org/database and DRAGON 4.02

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Distal myopathies v6.3 TIA1 Cassandra Smith reviewed gene: TIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Distal myopathies v6.3 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG: The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.
Distal myopathies v6.3 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Distal myopathies v6.2 CNBP_CCTG Sarah Leigh changed review comment from: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.; to: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel after the next available update.
Distal myopathies v6.2 NEB Arina Puzriakova Publications for gene: NEB were set to
Distal myopathies v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-10-30
Distal myopathies v6.0 Arina Puzriakova promoted panel to version 6.0
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Classified STR: CNBP_CCTG as Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Str: cnbp_cctg has been classified as Green List (High Evidence).
Distal myopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Distal myopathies v5.0 Eleanor Williams promoted panel to version 5.0
Distal myopathies v4.3 SMPX Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SMPX.
Tag Q3_23_MOI was removed from gene: SMPX.
Distal myopathies v4.3 SMPX Eleanor Williams reviewed gene: SMPX: Rating: GREEN; Mode of pathogenicity: ; 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)
Distal myopathies v4.2 SMPX Achchuthan Shanmugasundram Source Expert Review Green was added to SMPX.
Source NHS GMS was added to SMPX.
Mode of inheritance for gene SMPX 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)
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2024-05-01
Distal myopathies v4.0 Arina Puzriakova promoted panel to version 4.0
Distal myopathies v3.17 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Distal myopathies v3.17 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Distal myopathies v3.17 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh Deleted their comment
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v3.14 ADSSL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ADSSL1.
Distal myopathies v3.14 ADSSL1 Eleanor Williams reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v3.13 ADSSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ADSSL1.
Source NHS GMS was added to ADSSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Distal myopathies v3.12 GIPC1 Sarah Leigh Classified gene: GIPC1 as Red List (low evidence)
Distal myopathies v3.12 GIPC1 Sarah Leigh Added comment: Comment on list classification: This gene will remain red as it is only the GIPC1_GGC expansion that has been associated with disease.
Distal myopathies v3.12 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence).
Distal myopathies v3.11 GIPC1 Sarah Leigh reviewed gene: GIPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v3.11 GIPC1 Sarah Leigh Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy 2, OMIM:618940 to Oculopharyngodistal myopathy 2, OMIM:618940; oculopharyngodistal myopathy 2, MONDO:0030134
Distal myopathies v3.10 GIPC1 Sarah Leigh Tag STR tag was added to gene: GIPC1.
Distal myopathies v3.10 GIPC1 Sarah Leigh Classified gene: GIPC1 as Red List (low evidence)
Distal myopathies v3.10 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence).
Distal myopathies v3.9 GIPC1 Sarah Leigh Classified gene: GIPC1 as Amber List (moderate evidence)
Distal myopathies v3.9 GIPC1 Sarah Leigh Gene: gipc1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.8 SMPX Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SMPX.
Tag Q3_23_MOI tag was added to gene: SMPX.
Distal myopathies v3.8 SMPX Sarah Leigh edited their review of gene: SMPX: Added comment: Hemizygous variants in SMPX have been associated with Myopathy, distal, 7, adult-onset, X-linked (OMIM:301075), but not been associated with phenotype in Gen2Phen. PMID: 33974137 reports four SMPX variants in seven families without shared haplotypes. In vitro studies suggested a gain-of-function action of these variants, resulting a protein that was less soluble compared to wildtype, which in some cases had a tendency to aggregate.; Changed rating: GREEN
Distal myopathies v3.8 SMPX Sarah Leigh Phenotypes for gene: SMPX were changed from Distal myopathy to Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075; myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
Distal myopathies v3.7 SMPX Sarah Leigh Publications for gene: SMPX were set to PMID: 33974137
Distal myopathies v3.6 SMPX Sarah Leigh Classified gene: SMPX as Amber List (moderate evidence)
Distal myopathies v3.6 SMPX Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Distal myopathies v3.6 SMPX Sarah Leigh Gene: smpx has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ADSSL1.
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood.

This gene has also been associated with distal myopathy in OMIM (MIM #617030).

This gene can therefore be promoted to GREEN at the next major review.; to: Comment on list classification: There is sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood.

This gene has also been associated with distal myopathy in OMIM (MIM #617030).

This gene can therefore be promoted to GREEN at the next major review.
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.6 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Deleted their comment
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205
Distal myopathies v3.5 ADSSL1 Achchuthan Shanmugasundram Publications for gene: ADSSL1 were set to 26506222
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.4 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.3 ADSSL1 Achchuthan Shanmugasundram Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood.

This gene has also been associated with distal myopathy in OMIM (MIM #617030).

This gene can therefore be promoted to GREEN at the next major review.
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood.

This gene has also been associated with distal myopathy in OMIM (MIM #617030).

This gene can therefore be promoted to GREEN at the next major review.
Distal myopathies v3.2 ADSSL1 Achchuthan Shanmugasundram Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.1 ADSSL1 Achchuthan Shanmugasundram reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222, 28268051, 32331917, 32646962, 35668205; Phenotypes: Myopathy, distal, 5, OMIM:617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2023-03-22
Distal myopathies v3.0 Eleanor Williams promoted panel to version 3.0
Distal myopathies v2.4 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Distal myopathies v2.4 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Distal myopathies v2.4 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar 3, 609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Distal myopathies v2.3 CRYAB Mafalda Gomes Tag Q4_21_MOI was removed from gene: CRYAB.
Distal myopathies v2.3 CNBP Mafalda Gomes Tag Q4_21_MOI was removed from gene: CNBP.
Tag Q4_21_rating was removed from gene: CNBP.
Distal myopathies v2.3 CRYAB Mafalda Gomes commented on gene: CRYAB
Distal myopathies v2.3 CNBP Mafalda Gomes edited their review of gene: CNBP: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Distal myopathies v2.3 CNBP Mafalda Gomes commented on gene: CNBP
Distal myopathies v2.2 CRYAB Mafalda Gomes Source NHS GMS was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Distal myopathies v2.2 CNBP Mafalda Gomes Source Expert Review Red was added to CNBP.
Source NHS GMS was added to CNBP.
Mode of inheritance for gene CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Distal myopathies v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Distal myopathies v2.0 Catherine Snow promoted panel to version 2.0
Distal myopathies v1.48 TTN Arina Puzriakova commented on gene: TTN: 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.
Distal myopathies v1.47 ADSSL1 Arina Puzriakova commented on gene: ADSSL1
Distal myopathies v1.47 ADSSL1 Arina Puzriakova Tag new-gene-name tag was added to gene: ADSSL1.
Distal myopathies v1.47 GIPC1 Arina Puzriakova Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 to Oculopharyngodistal myopathy 2, OMIM:618940
Distal myopathies v1.46 GIPC1 Arina Puzriakova Publications for gene: GIPC1 were set to 32413282
Distal myopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Distal myopathies v1.45 AR_CAG Ivone Leong commented on STR: AR_CAG
Distal myopathies v1.45 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Distal myopathies v1.45 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Distal myopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Distal myopathies v1.42 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)
Distal myopathies v1.41 TTN Arina Puzriakova commented on gene: TTN
Distal myopathies v1.40 TTN Arina Puzriakova Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Distal myopathies v1.39 DNM2 Arina Puzriakova Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear, 160150 to Centronuclear myopathy 1, OMIM:160150
Distal myopathies v1.38 SMPX Dmitrijs Rots gene: SMPX was added
gene: SMPX was added to Distal myopathies. Sources: Literature
Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMPX were set to PMID: 33974137
Phenotypes for gene: SMPX were set to Distal myopathy
Penetrance for gene: SMPX were set to unknown
Mode of pathogenicity for gene: SMPX was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SMPX was set to GREEN
Added comment: Hemizygous variants in 10 patients from 9 families with functional data.
Sources: Literature
Distal myopathies v1.38 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
Distal myopathies v1.37 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Distal myopathies v1.37 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Distal myopathies v1.36 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Distal myopathies v1.36 CNBP Arina Puzriakova changed review comment from: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism; to: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels
Distal myopathies v1.36 CNBP Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CNBP.
Tag Q4_21_rating tag was added to gene: CNBP.
Distal myopathies v1.36 CNBP Arina Puzriakova Classified gene: CNBP as Green List (high evidence)
Distal myopathies v1.36 CNBP Arina Puzriakova Added comment: Comment on list classification: Should be demoted to Red at the next GMS update, this review is for the STR entity and not the gene entity.
Distal myopathies v1.36 CNBP Arina Puzriakova Gene: cnbp has been classified as Green List (High Evidence).
Distal myopathies v1.35 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v1.34 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Distal myopathies v1.34 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Distal myopathies v1.33 CRYAB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CRYAB.
Distal myopathies v1.33 CRYAB Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. Predominantly monoallelic inheritance, though there are rare cases with biallelic variants where individuals tend to be more severely affected.
Distal myopathies v1.33 CRYAB Arina Puzriakova Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v1.32 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Distal myopathies v1.31 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
Distal myopathies v1.30 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, 161800 to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Distal myopathies v1.29 GIPC1 Zornitza Stark edited their review of gene: GIPC1: Added comment: PMID 33374016: a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases). The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident.; Changed publications: 32413282, 33374016
Distal myopathies v1.29 LRIF1 Eleanor Williams Classified gene: LRIF1 as Amber List (moderate evidence)
Distal myopathies v1.29 LRIF1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.
Distal myopathies v1.29 LRIF1 Eleanor Williams Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.28 LRIF1 Eleanor Williams gene: LRIF1 was added
gene: LRIF1 was added to Distal myopathies. Sources: Literature
Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIF1 were set to 32467133
Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy
Review for gene: LRIF1 was set to AMBER
Added comment: Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia.
https://panelapp.agha.umccr.org/panels/328/gene/LRIF1/:
A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature
Distal myopathies v1.27 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from myofibrillar myopathy 5, 609524; Distal myopathy 4, 614065 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
Distal myopathies v1.26 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
Distal myopathies v1.25 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
Distal myopathies v1.24 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Distal myopathies v1.23 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Distal myopathies v1.22 Catherine Snow Panel version has been signed off
Distal myopathies v1.21 Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Distal myopathies v1.20 GIPC1 Zornitza Stark gene: GIPC1 was added
gene: GIPC1 was added to Distal myopathies. Sources: Literature
Mode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GIPC1 were set to 32413282
Phenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
Mode of pathogenicity for gene: GIPC1 was set to Other
Review for gene: GIPC1 was set to GREEN
Added comment: 19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays, and may be best dealt with as an STR disorder here.
Sources: Literature
Distal myopathies v1.20 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Distal myopathies v1.19 Catherine Snow Panel version has been signed off
Distal myopathies v1.19 Catherine Snow Panel version has been signed off
Distal myopathies v1.16 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Distal myopathies v1.15 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Amber List (moderate evidence)
Distal myopathies v1.15 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Amber List (Moderate Evidence).
Distal myopathies v1.14 ADSSL1 Louise Daugherty gene: ADSSL1 was added
gene: ADSSL1 was added to Distal myopathies. Sources: Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, 617030
Review for gene: ADSSL1 was set to AMBER
Added comment: New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel
Sources: Expert Review
Distal myopathies v1.12 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Distal myopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Distal myopathies v1.11 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Distal myopathies v1.10 AR_CAG Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Distal myopathies v1.9 AR_CAG Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Distal myopathies v1.9 AR_CAG Louise Daugherty Tag STR tag was added to STR: AR_CAG.
Distal myopathies v1.9 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Distal myopathies v1.9 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
Distal myopathies v1.9 AR_CAG Arianna Tucci Str: ar_cag has been classified as Green List (High Evidence).
Distal myopathies v1.9 AR_CAG Arianna Tucci Classified STR: AR_CAG as Green List (high evidence)
Distal myopathies v1.9 AR_CAG Arianna Tucci Str: ar_cag has been classified as Green List (High Evidence).
Distal myopathies v1.8 AR_CAG Arianna Tucci STR: AR_CAG was added
STR: AR_CAG was added to Distal myopathies. 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
Distal myopathies v1.7 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Distal myopathies CNBP Ellen McDonagh commented on STR: CNBP_CCTG
Distal myopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG
Distal myopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG
Distal myopathies CNBP Ellen McDonagh Added STR to panel
Distal myopathies Arianna Tucci promoted panel to version 1
Distal myopathies KLHL9 Arianna Tucci marked KLHL9 as ready
Distal myopathies VCP Arianna Tucci marked VCP as ready
Distal myopathies VCP Arianna Tucci classified VCP as green
Distal myopathies TTN Arianna Tucci marked TTN as ready
Distal myopathies TTN Arianna Tucci classified TTN as green
Distal myopathies TTN Arianna Tucci marked TTN as ready
Distal myopathies TIA1 Arianna Tucci marked TIA1 as ready
Distal myopathies TIA1 Arianna Tucci classified TIA1 as green
Distal myopathies SQSTM1 Arianna Tucci marked SQSTM1 as ready
Distal myopathies SQSTM1 Arianna Tucci classified SQSTM1 as green
Distal myopathies NEB Arianna Tucci marked NEB as ready
Distal myopathies NEB Arianna Tucci classified NEB as green
Distal myopathies MYOT Arianna Tucci marked MYOT as ready
Distal myopathies MYOT Arianna Tucci classified MYOT as green
Distal myopathies MATR3 Arianna Tucci marked MATR3 as ready
Distal myopathies MATR3 Arianna Tucci classified MATR3 as green
Distal myopathies LDB3 Arianna Tucci marked LDB3 as ready
Distal myopathies LDB3 Arianna Tucci marked LDB3 as ready
Distal myopathies LDB3 Arianna Tucci classified LDB3 as green
Distal myopathies HSPB8 Arianna Tucci marked HSPB8 as ready
Distal myopathies HSPB8 Arianna Tucci classified HSPB8 as green
Distal myopathies HSPB1 Arianna Tucci marked HSPB1 as ready
Distal myopathies HSPB1 Arianna Tucci classified HSPB1 as green
Distal myopathies GNE Arianna Tucci marked GNE as ready
Distal myopathies GNE Arianna Tucci classified GNE as green
Distal myopathies FHL1 Arianna Tucci marked FHL1 as ready
Distal myopathies FHL1 Arianna Tucci classified FHL1 as green
Distal myopathies FLNC Arianna Tucci marked FLNC as ready
Distal myopathies FLNC Arianna Tucci classified FLNC as green
Distal myopathies DNM2 Arianna Tucci marked DNM2 as ready
Distal myopathies DNM2 Arianna Tucci marked DNM2 as ready
Distal myopathies DNM2 Arianna Tucci classified DNM2 as green
Distal myopathies DYSF Arianna Tucci marked DYSF as ready
Distal myopathies DYSF Arianna Tucci classified DYSF as green
Distal myopathies DUX4 Arianna Tucci marked DUX4 as ready
Distal myopathies DUX4 Arianna Tucci commented on DUX4
Distal myopathies DUX4 Arianna Tucci classified DUX4 as red
Distal myopathies DNAJB6 Arianna Tucci marked DNAJB6 as ready
Distal myopathies DNAJB6 Arianna Tucci classified DNAJB6 as green
Distal myopathies DMPK Arianna Tucci marked DMPK as ready
Distal myopathies DMD Arianna Tucci marked DMD as ready
Distal myopathies DMD Arianna Tucci commented on DMD
Distal myopathies DMD Arianna Tucci classified DMD as red
Distal myopathies DES Arianna Tucci marked DES as ready
Distal myopathies DES Arianna Tucci classified DES as green
Distal myopathies CRYAB Arianna Tucci marked CRYAB as ready
Distal myopathies CRYAB Arianna Tucci classified CRYAB as green
Distal myopathies CNBP Arianna Tucci marked CNBP as ready
Distal myopathies CNBP Arianna Tucci classified CNBP as green
Distal myopathies BAG3 Arianna Tucci marked BAG3 as ready
Distal myopathies BAG3 Arianna Tucci classified BAG3 as green
Distal myopathies ANO5 Arianna Tucci marked ANO5 as ready
Distal myopathies ANO5 Arianna Tucci classified ANO5 as green
Distal myopathies ACTA1 Arianna Tucci marked ACTA1 as ready
Distal myopathies ACTA1 Arianna Tucci classified ACTA1 as green
Distal myopathies MYH7 Arianna Tucci marked MYH7 as ready
Distal myopathies MYH7 Arianna Tucci classified MYH7 as green
Distal myopathies SQSTM1 Arianna Tucci added SQSTM1 to panel
Distal myopathies SQSTM1 Arianna Tucci reviewed SQSTM1
Distal myopathies HSPB1 Arianna Tucci added HSPB1 to panel
Distal myopathies HSPB1 Arianna Tucci reviewed HSPB1
Distal myopathies HSPB8 Arianna Tucci added HSPB8 to panel
Distal myopathies HSPB8 Arianna Tucci reviewed HSPB8
Distal myopathies DNM2 Arianna Tucci added DNM2 to panel
Distal myopathies DNM2 Arianna Tucci reviewed DNM2
Distal myopathies KLHL9 Arianna Tucci added KLHL9 to panel
Distal myopathies KLHL9 Arianna Tucci reviewed KLHL9
Distal myopathies ACTA1 Arianna Tucci added ACTA1 to panel
Distal myopathies ACTA1 Arianna Tucci reviewed ACTA1
Distal myopathies FHL1 Arianna Tucci added FHL1 to panel
Distal myopathies FHL1 Arianna Tucci reviewed FHL1
Distal myopathies CNBP Arianna Tucci added CNBP to panel
Distal myopathies CNBP Arianna Tucci reviewed CNBP
Distal myopathies DMPK Arianna Tucci reviewed DMPK
Distal myopathies VCP Arianna Tucci added VCP to panel
Distal myopathies VCP Arianna Tucci reviewed VCP
Distal myopathies NEB Arianna Tucci added NEB to panel
Distal myopathies NEB Arianna Tucci reviewed NEB
Distal myopathies MATR3 Arianna Tucci reviewed MATR3
Distal myopathies DNAJB6 Arianna Tucci added DNAJB6 to panel
Distal myopathies DNAJB6 Arianna Tucci reviewed DNAJB6
Distal myopathies BAG3 Arianna Tucci added BAG3 to panel
Distal myopathies BAG3 Arianna Tucci reviewed BAG3
Distal myopathies FLNC Arianna Tucci added FLNC to panel
Distal myopathies FLNC Arianna Tucci reviewed FLNC
Distal myopathies LDB3 Arianna Tucci reviewed LDB3
Distal myopathies MYOT Arianna Tucci reviewed MYOT
Distal myopathies DES Arianna Tucci reviewed DES
Distal myopathies CRYAB Arianna Tucci commented on CRYAB
Distal myopathies CRYAB Arianna Tucci reviewed CRYAB
Distal myopathies ANO5 Arianna Tucci added ANO5 to panel
Distal myopathies ANO5 Arianna Tucci reviewed ANO5
Distal myopathies TIA1 Arianna Tucci reviewed TIA1
Distal myopathies DYSF Arianna Tucci added DYSF to panel
Distal myopathies DYSF Arianna Tucci reviewed DYSF
Distal myopathies GNE Arianna Tucci added GNE to panel
Distal myopathies GNE Arianna Tucci reviewed GNE
Distal myopathies TTN Arianna Tucci reviewed TTN
Distal myopathies MYH7 Arianna Tucci reviewed MYH7