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Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.27 SNUPN Seb Lunke Marked gene: SNUPN as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.27 SNUPN Seb Lunke Gene: snupn has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.27 SNUPN Seb Lunke Classified gene: SNUPN as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.27 SNUPN Seb Lunke Gene: snupn has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 SNUPN Suliman Khan gene: SNUPN was added
gene: SNUPN was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to PMID: 38413582; PMID: 38366623
Phenotypes for gene: SNUPN were set to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Penetrance for gene: SNUPN were set to unknown
Review for gene: SNUPN was set to GREEN
Added comment: PMID: 38413582: reported 18 children from 15 unrelated families with muscular phenotypes, including proximal upper limb weakness, distal upper and lower limb weakness, and myopathy (EMG) with elevated serum creatinine kinase level. Exome sequencing revealed nine hypomorphic biallelic variants in the SNUPN gene, predominantly clustered in the last coding exon. Functional studies showed that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts.

PMID: 38366623: reported five individuals from two unrelated families with limb-girdle muscular dystrophy.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Marked gene: GYG1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Gene: gyg1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Classified gene: GYG1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.26 GYG1 Bryony Thompson Gene: gyg1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.25 GYG1 Bryony Thompson gene: GYG1 was added
gene: GYG1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 29422440; 32477874; 32528171
Phenotypes for gene: GYG1 were set to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507
Review for gene: GYG1 was set to GREEN
gene: GYG1 was marked as current diagnostic
Added comment: Limb-girdle muscle weakness can be a feature of this myopathy.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 HNRNPA1 Zornitza Stark changed review comment from: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; to: PMID 34722876: single multigenerational family reported with slowly progressive distal myopathy and 160bp deletion involving exon 10.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 HNRNPA1 Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 to Myopathy, distal, 3, MIM# 610099; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.23 HNRNPA1 Zornitza Stark Publications for gene: HNRNPA1 were set to 23455423; 27066560
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.22 HNRNPA1 Zornitza Stark edited their review of gene: HNRNPA1: Added comment: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; Changed publications: 23455423, 34291734, 34722876; Changed phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426, Myopathy, distal, 3, MIM# 610099
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.22 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy MONDO:0020121, MAMDC2-related to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Marked gene: MAMDC2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 MAMDC2 Belinda Chong edited their review of gene: MAMDC2: Changed phenotypes: Muscular Dystrophy MONDO:0020121, MAMDC2-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 MAMDC2 Belinda Chong gene: MAMDC2 was added
gene: MAMDC2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAMDC2 were set to 37503746
Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy
Review for gene: MAMDC2 was set to AMBER
Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 RYR1 Bryony Thompson Marked gene: RYR1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 RYR1 Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 RYR1 Bryony Thompson Classified gene: RYR1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 RYR1 Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.19 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 30842289; 33458580
Phenotypes for gene: RYR1 were set to calf predominant distal myopathy; distal myopathy MONDO:0018949
Review for gene: RYR1 was set to GREEN
gene: RYR1 was marked as current diagnostic
Added comment: Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 NEB Bryony Thompson Marked gene: NEB as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 NEB Bryony Thompson Gene: neb has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 NEB Bryony Thompson Classified gene: NEB as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 NEB Bryony Thompson Gene: neb has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.17 NEB Bryony Thompson gene: NEB was added
gene: NEB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 21724397; 17525139; 33458580; 25205138
Phenotypes for gene: NEB were set to distal myopathy MONDO:0018949
Review for gene: NEB was set to GREEN
gene: NEB was marked as current diagnostic
Added comment: Distal myopathy has been reported as a presenting feature, mainly in cases with biallelic missense variants.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 OPDM1 Bryony Thompson Marked STR: OPDM1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 OPDM1 Bryony Thompson Str: opdm1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 OPDM1 Bryony Thompson Classified STR: OPDM1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 OPDM1 Bryony Thompson Str: opdm1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.15 OPDM1 Bryony Thompson STR: OPDM1 was added
STR: OPDM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: OPDM1 were set to 31332380; 34047774
Phenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310
Review for STR: OPDM1 was set to GREEN
STR: OPDM1 was marked as clinically relevant
Added comment: NM_013437.5:c.-102CGG[X]
RNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM.
Normal: 13 to 45 repeats.
Pathogenic: 85 to 289 repeats.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 OPDM2 Bryony Thompson Marked STR: OPDM2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 OPDM2 Bryony Thompson Str: opdm2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 OPDM2 Bryony Thompson Classified STR: OPDM2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 OPDM2 Bryony Thompson Str: opdm2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.13 OPDM2 Bryony Thompson STR: OPDM2 was added
STR: OPDM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for STR: OPDM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: OPDM2 were set to 32413282; 33374016
Phenotypes for STR: OPDM2 were set to Oculopharyngodistal myopathy 2 MIM#618940
Review for STR: OPDM2 was set to GREEN
STR: OPDM2 was marked as clinically relevant
Added comment: NM_005716.4:c.-211GGC[X]
>15 Chinese families/probands with a heterozygous trinucleotide repeat expansion (CGG(n)) in 5'UTR exon 1 of the GIPC1 gene. The expansion was found by a combination of linkage analysis, whole-exome sequencing, long-range sequencing, and PCR analysis, and segregated with the disorder in the family. Repeat lengths in the patients ranged from 70 to 138. Normal repeat lengths ranged from 12 to 32.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 NIID Bryony Thompson Marked STR: NIID as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.11 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[X]
Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.
Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.
Intermediate range: 41-60 identified in Parkinson's disease
Pathogenic repeat range: >=60-520
Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 KLHL9 Bryony Thompson Marked gene: KLHL9 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 KLHL9 Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 KLHL9 Bryony Thompson Classified gene: KLHL9 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 KLHL9 Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.9 KLHL9 Bryony Thompson edited their review of gene: KLHL9: Changed publications: 20554658, 33458580
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.9 KLHL9 Bryony Thompson gene: KLHL9 was added
gene: KLHL9 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL9 were set to 20554658
Phenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949
Review for gene: KLHL9 was set to AMBER
Added comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 HSPB8 Bryony Thompson Marked gene: HSPB8 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 HSPB8 Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 HSPB8 Bryony Thompson Classified gene: HSPB8 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 HSPB8 Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.7 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 32165108; 26718575; 31403083; 28780615
Phenotypes for gene: HSPB8 were set to autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
Mode of pathogenicity for gene: HSPB8 was set to Other
Review for gene: HSPB8 was set to GREEN
gene: HSPB8 was marked as current diagnostic
Added comment: At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 DNM2 Bryony Thompson Marked gene: DNM2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 DNM2 Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 DNM2 Bryony Thompson Classified gene: DNM2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 DNM2 Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.5 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNM2 were set to 16227997; 33458580; 30232666; 24465259; 23938035
Phenotypes for gene: DNM2 were set to autosomal dominant centronuclear myopathy MONDO:0008048
Review for gene: DNM2 was set to GREEN
gene: DNM2 was marked as current diagnostic
Added comment: Distal myopathy is a common feature reported in affected cases.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 MRUPAV Bryony Thompson Marked STR: MRUPAV as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 MRUPAV Bryony Thompson Str: mrupav has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 MRUPAV Bryony Thompson Classified STR: MRUPAV as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 MRUPAV Bryony Thompson Str: mrupav has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.3 MRUPAV Bryony Thompson STR: MRUPAV was added
STR: MRUPAV was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779
Phenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945
Review for STR: MRUPAV was set to GREEN
STR: MRUPAV was marked as clinically relevant
Added comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation.
Suggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV)
An additional 4 unrelated Chinese families/probands were reported.
Normal PLIN4 alleles: 27-31 x 33-mer
Pathogenic: ≥39 x 33-mer
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 MB Bryony Thompson Marked gene: MB as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 MB Bryony Thompson Gene: mb has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 MB Bryony Thompson Classified gene: MB as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 MB Bryony Thompson Gene: mb has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.1 MB Bryony Thompson gene: MB was added
gene: MB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
Mode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MB were set to 35527200; 30918256
Phenotypes for gene: MB were set to Myopathy, sarcoplasmic body MIM#620286
Review for gene: MB was set to GREEN
Added comment: Single recurrent variant (H98Y) was reported in multiple unrelated families. Only reported pathogenic variant to date.
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.0 Bryony Thompson promoted panel to version 1.0
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 VCP Bryony Thompson Classified gene: VCP as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 VCP Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity - reviewed 23/12/2021
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 VCP Bryony Thompson Gene: vcp has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 DM1 Bryony Thompson Marked STR: DM1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 DM1 Bryony Thompson Classified STR: DM1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 DM1 Bryony Thompson Str: dm1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.153 DM1 Bryony Thompson STR: DM1 was added
STR: DM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Review for STR: DM1 was set to GREEN
STR: DM1 was marked as clinically relevant
Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 CHKB Bryony Thompson Marked gene: CHKB as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 CHKB Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 CHKB Bryony Thompson Classified gene: CHKB as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 CHKB Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.151 CHKB Bryony Thompson gene: CHKB was added
gene: CHKB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 37011121
Phenotypes for gene: CHKB were set to megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy
Review for gene: CHKB was set to AMBER
Added comment: 3/47 affected individuals have been diagnosed with adolescent-onset limb-girdle muscular dystrophy. 2 presented with rhabdomyolysis. 1 had mild intellectual disability. Behaviour abnormalities and dilated cardiomyopathy were not observed.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 UNC45B Bryony Thompson Marked gene: UNC45B as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 UNC45B Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 UNC45B Bryony Thompson Classified gene: UNC45B as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 UNC45B Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 SVIL Bryony Thompson Marked gene: SVIL as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 SVIL Bryony Thompson Gene: svil has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 SVIL Bryony Thompson Classified gene: SVIL as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 SVIL Bryony Thompson Gene: svil has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 MYL2 Bryony Thompson Marked gene: MYL2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 MYL2 Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 MYL2 Bryony Thompson Classified gene: MYL2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 MYL2 Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 KY Bryony Thompson Marked gene: KY as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 KY Bryony Thompson Gene: ky has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 KY Bryony Thompson Classified gene: KY as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 KY Bryony Thompson Gene: ky has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 HMGCR Zornitza Stark Marked gene: HMGCR as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 HMGCR Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 HMGCR Zornitza Stark Classified gene: HMGCR as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 HMGCR Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 HMGCR Naomi Baker gene: HMGCR was added
gene: HMGCR was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to PMID: 37167966; 36745799
Phenotypes for gene: HMGCR were set to autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related
Review for gene: HMGCR was set to GREEN
Added comment: PMID: 37167966 reports nine affected individuals from five unrelated families with hypomorphic biallelic variants. Clinical presentations ranges from 4 months to 10 years, and included hydrops, delayed delayed motor milestones, prominent calves, and neck weakness. Seven missense identified, one in-frame deletion and one non-canonical splice variant. Functional studies of three missense variants demonstrated reduced exhibit significant enzymatic activity impairment relative to wild-type (WT) HMGCR protein.

PMID: 36745799 also reports a homozygous loss-of-function missense variant.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 UNC45B Sangavi Sivagnanasundram gene: UNC45B was added
gene: UNC45B was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45B were set to 33217308; 31852522
Phenotypes for gene: UNC45B were set to Myofibrillar myopathy 11 (MIM#619178)
Review for gene: UNC45B was set to GREEN
Added comment: Onset is within the first decade of life typically indicated by slow progression of proximal muscle weakness.

PMID: 33217308; 31852522
11 individuals from 9 unrelated families with symptoms of progressive proximal muscle weakness.

PMID: 31852522
Muscle biopsy was conducted on one individual which showed myopathic changes with core-like structures
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 SVIL Sangavi Sivagnanasundram gene: SVIL was added
gene: SVIL was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
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 Myofibrillar myopathy 10 (MIM#619040)
Review for gene: SVIL was set to AMBER
Added comment: Onset is typically within the first or second decade of life while some individuals of onset in early childhood.
Typical features at onset is muscle pain, cramping, and exercise fatigue.

PMID: 32779703
2 affected individuals from 2 unrelated consanguineous families with hypertrophic muscles and muscle rigidity
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 MYL2 Sangavi Sivagnanasundram gene: MYL2 was added
gene: MYL2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL2 were set to 23365102; 9673982
Phenotypes for gene: MYL2 were set to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)
Review for gene: MYL2 was set to GREEN
Added comment: Onset is in the first few weeks of life.
Typical features include hypotrophy of skeletal and cardiac muscle

PMID: 23365102; 9673982
13 affected individuals from 6 unrelated family with progressive muscle weakness and cardiomyopathy
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 KY Sangavi Sivagnanasundram gene: KY was added
gene: KY was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KY were set to 27484770; 27485408; 30591934; 11136708
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7 (MIM#617114)
Review for gene: KY was set to GREEN
Added comment: Onset is early childhood with slow progression of muscle weakness

PMID: 27484770; 27485408; 30591934
4 individuals from 3 unrelated consanguineous families with slowly progressive myopathy.
Muscle biopsy showed myopathic changes (increased variability in fibre size) and all individuals had a homozygous mutation present in the KY gene.

PMID: 11136708
A mouse model showed myopathy degeneration in the presence of a mutation in KY.
Histopathology on the mutant mouse confirmed the importance of KY protein in muscle growth and function.
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 POMGNT1 Bryony Thompson Marked gene: POMGNT1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 POMGNT1 Bryony Thompson Gene: pomgnt1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 POMGNT1 Bryony Thompson Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.144 POMGNT1 Bryony Thompson Publications for gene: POMGNT1 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.143 PLEC Bryony Thompson Marked gene: PLEC as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.143 PLEC Bryony Thompson Gene: plec has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.143 PLEC Bryony Thompson Publications for gene: PLEC were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.142 LAMA2 Bryony Thompson Marked gene: LAMA2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.142 LAMA2 Bryony Thompson Gene: lama2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.142 LAMA2 Bryony Thompson Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.141 LAMA2 Bryony Thompson Publications for gene: LAMA2 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.140 GMPPB Bryony Thompson Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.139 FKTN Bryony Thompson Marked gene: FKTN as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.139 FKTN Bryony Thompson Gene: fktn has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.139 FKTN Bryony Thompson Publications for gene: FKTN were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.138 FKRP Bryony Thompson Marked gene: FKRP as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.138 FKRP Bryony Thompson Gene: fkrp has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.138 FKRP Bryony Thompson Publications for gene: FKRP were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.137 FHL1 Bryony Thompson Marked gene: FHL1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.137 FHL1 Bryony Thompson Gene: fhl1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.137 FHL1 Bryony Thompson Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.136 FHL1 Bryony Thompson Publications for gene: FHL1 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.135 EMD Bryony Thompson Marked gene: EMD as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.135 EMD Bryony Thompson Gene: emd has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.135 EMD Bryony Thompson Publications for gene: EMD were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 DPM3 Bryony Thompson Marked gene: DPM3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 DPM3 Bryony Thompson Gene: dpm3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 DOK7 Bryony Thompson Marked gene: DOK7 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 DOK7 Bryony Thompson Gene: dok7 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 DOK7 Bryony Thompson Publications for gene: DOK7 were set to PMID: 31453852; 32360404
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.132 ANXA11 Bryony Thompson Marked gene: ANXA11 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.132 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.132 ANXA11 Bryony Thompson Classified gene: ANXA11 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.132 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.131 BICD2 Bryony Thompson Marked gene: BICD2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.131 BICD2 Bryony Thompson Gene: bicd2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.131 BICD2 Bryony Thompson Classified gene: BICD2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.131 BICD2 Bryony Thompson Gene: bicd2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 GFPT1 Bryony Thompson Marked gene: GFPT1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 GFPT1 Bryony Thompson Gene: gfpt1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 GFPT1 Bryony Thompson Classified gene: GFPT1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 GFPT1 Bryony Thompson Gene: gfpt1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 HNRNPA1 Bryony Thompson Marked gene: HNRNPA1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 HNRNPA1 Bryony Thompson Gene: hnrnpa1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 HNRNPA1 Bryony Thompson Classified gene: HNRNPA1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 HNRNPA1 Bryony Thompson Gene: hnrnpa1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.128 HNRNPA2B1 Bryony Thompson Marked gene: HNRNPA2B1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.128 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.128 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.128 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.127 LDB3 Bryony Thompson Marked gene: LDB3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.127 LDB3 Bryony Thompson Gene: ldb3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.127 LDB3 Bryony Thompson Classified gene: LDB3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.127 LDB3 Bryony Thompson Gene: ldb3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 PABPN1 Bryony Thompson Marked gene: PABPN1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 PABPN1 Bryony Thompson Gene: pabpn1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 PABPN1 Bryony Thompson Classified gene: PABPN1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 PABPN1 Bryony Thompson Gene: pabpn1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.125 SMPX Bryony Thompson Marked gene: SMPX as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.125 SMPX Bryony Thompson Gene: smpx has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.125 SMPX Bryony Thompson Classified gene: SMPX as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.125 SMPX Bryony Thompson Gene: smpx has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.124 SQSTM1 Bryony Thompson Marked gene: SQSTM1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.124 SQSTM1 Bryony Thompson Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.124 SQSTM1 Bryony Thompson Classified gene: SQSTM1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.124 SQSTM1 Bryony Thompson Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.123 TIA1 Bryony Thompson Marked gene: TIA1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.123 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.123 TIA1 Bryony Thompson Publications for gene: TIA1 were set to 23401021; 23401021
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.122 TIA1 Bryony Thompson Classified gene: TIA1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.122 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.121 TMEM43 Bryony Thompson Marked gene: TMEM43 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.121 TMEM43 Bryony Thompson Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.121 TMEM43 Bryony Thompson Classified gene: TMEM43 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.121 TMEM43 Bryony Thompson Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 DMD Bryony Thompson Marked gene: DMD as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 DMD Bryony Thompson Gene: dmd has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.120 DMD Bryony Thompson Publications for gene: DMD were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.119 DAG1 Bryony Thompson Marked gene: DAG1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.119 DAG1 Bryony Thompson Gene: dag1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.119 DAG1 Bryony Thompson Publications for gene: DAG1 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.118 COL6A3 Bryony Thompson Marked gene: COL6A3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.118 COL6A3 Bryony Thompson Gene: col6a3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.118 COL6A3 Bryony Thompson Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.117 COL6A3 Bryony Thompson Publications for gene: COL6A3 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.116 COL6A3 Bryony Thompson Mode of inheritance for gene: COL6A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.115 COL6A2 Bryony Thompson Marked gene: COL6A2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.115 COL6A2 Bryony Thompson Gene: col6a2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.115 COL6A2 Bryony Thompson Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.114 COL6A2 Bryony Thompson Publications for gene: COL6A2 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.113 COL6A2 Bryony Thompson Mode of inheritance for gene: COL6A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.112 COL6A1 Bryony Thompson Marked gene: COL6A1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.112 COL6A1 Bryony Thompson Gene: col6a1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.112 COL6A1 Bryony Thompson Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.111 COL6A1 Bryony Thompson Mode of inheritance for gene: COL6A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.110 COL6A1 Bryony Thompson Publications for gene: COL6A1 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 VPS13A Bryony Thompson Marked gene: VPS13A as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 VPS13A Bryony Thompson Gene: vps13a has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 VPS13A Bryony Thompson Classified gene: VPS13A as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.108 VPS13A Bryony Thompson Gene: vps13a has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.107 VPS13A Bryony Thompson gene: VPS13A was added
gene: VPS13A was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 33652783; 20301561
Phenotypes for gene: VPS13A were set to chorea-acanthocytosis MONDO:0008695
Review for gene: VPS13A was set to GREEN
gene: VPS13A was marked as current diagnostic
Added comment: Well-established gene-disease association. A feature of the condition can be progressive distal muscle wasting and weakness that can be subclinical (only creatine kinase [CK] elevation). Myopathic changes can be detected on electromyography (as well as chronic denervation).
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.106 VMA21 Bryony Thompson Classified gene: VMA21 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.106 VMA21 Bryony Thompson Gene: vma21 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.105 TMEM43 Bryony Thompson gene: TMEM43 was added
gene: TMEM43 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 21391237; 30311943
Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.104 TIA1 Bryony Thompson gene: TIA1 was added
gene: TIA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TIA1 were set to 23401021; 23401021
Phenotypes for gene: TIA1 were set to distal myopathy, Welander type MONDO:0011466
Mode of pathogenicity for gene: TIA1 was set to Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.103 STIM1 Bryony Thompson Classified gene: STIM1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.103 STIM1 Bryony Thompson Gene: stim1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.102 PYROXD1 Bryony Thompson Classified gene: PYROXD1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.102 PYROXD1 Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.101 SQSTM1 Bryony Thompson gene: SQSTM1 was added
gene: SQSTM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SQSTM1 were set to 29599744; 26208961; 29457785
Phenotypes for gene: SQSTM1 were set to myopathy, distal, with rimmed vacuoles MONDO:0014945; multisystem proteinopathy
Mode of pathogenicity for gene: SQSTM1 was set to Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.100 SMPX Bryony Thompson gene: SMPX was added
gene: SMPX was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. 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 33974137
Phenotypes for gene: SMPX were set to Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Mode of pathogenicity for gene: SMPX was set to Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.99 ORAI1 Bryony Thompson Classified gene: ORAI1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.99 ORAI1 Bryony Thompson Gene: orai1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.98 PABPN1 Bryony Thompson gene: PABPN1 was added
gene: PABPN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other
Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PABPN1 were set to 19080757; 33805441; 16648376
Phenotypes for gene: PABPN1 were set to oculopharyngeal muscular dystrophy MONDO:0008116
Added comment: Included for overlapping phenotype
Sources: Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.97 MYOT Bryony Thompson Classified gene: MYOT as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.97 MYOT Bryony Thompson Gene: myot has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.96 MYOT Bryony Thompson Publications for gene: MYOT were set to 30055862; 21336781; 15947064
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.95 MYH7 Bryony Thompson Classified gene: MYH7 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.95 MYH7 Bryony Thompson Gene: myh7 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.94 MATR3 Bryony Thompson Marked gene: MATR3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.94 MATR3 Bryony Thompson Gene: matr3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.94 MATR3 Bryony Thompson Classified gene: MATR3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.94 MATR3 Bryony Thompson Gene: matr3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.93 MATR3 Bryony Thompson gene: MATR3 was added
gene: MATR3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MATR3 were set to 19344878; 34659085; 25154462; 31056746
Phenotypes for gene: MATR3 were set to distal myopathy with vocal cord weakness MONDO:0018951
Mode of pathogenicity for gene: MATR3 was set to Other
Review for gene: MATR3 was set to GREEN
gene: MATR3 was marked as current diagnostic
Added comment: At least 13 families with distal myopathy with vocal cord and pharyngeal weakness reported with the same recurrent missense variant p.Ser85Cys, which has been shown to arise by independent mutational events in multiple populations. A mouse model of the variant recapitulated the multisystem proteinopathy phenotype which includes myopathy. The mechanism of disease is toxic gain of function
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.92 LDB3 Bryony Thompson gene: LDB3 was added
gene: LDB3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB3 were set to 24668811; 27546599; 25911362
Phenotypes for gene: LDB3 were set to myofibrillar myopathy 4 MONDO:0012277
Mode of pathogenicity for gene: LDB3 was set to Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.91 HNRNPA2B1 Bryony Thompson gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965; 35484142
Phenotypes for gene: HNRNPA2B1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.90 HNRNPA1 Bryony Thompson gene: HNRNPA1 was added
gene: HNRNPA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA1 were set to 23455423; 27066560
Phenotypes for gene: HNRNPA1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179
Mode of pathogenicity for gene: HNRNPA1 was set to Other
Added comment: Protein aggregation is expected to be the mechanism of disease. Most individuals with IBMPFD have limb-girdle weakness
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.89 GNE Bryony Thompson Publications for gene: GNE were set to 22883483
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.88 GNE Bryony Thompson Classified gene: GNE as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.88 GNE Bryony Thompson Added comment: Comment on list classification: Distal myopathy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.88 GNE Bryony Thompson Gene: gne has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.87 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 28712002; 29905857; 31449669
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Limb-girdle congenital myasthenic syndrome
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.86 CAV3 Bryony Thompson Classified gene: CAV3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.86 CAV3 Bryony Thompson Gene: cav3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.85 DNAJB4 Bryony Thompson Marked gene: DNAJB4 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.85 DNAJB4 Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.85 DNAJB4 Bryony Thompson Classified gene: DNAJB4 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.85 DNAJB4 Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.84 DNAJB4 Bryony Thompson gene: DNAJB4 was added
gene: DNAJB4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36512060; 36264506
Phenotypes for gene: DNAJB4 were set to distal myopathy MONDO:0018949; Myopathy, MONDO:0005336, DNAJB4-related
Review for gene: DNAJB4 was set to GREEN
Added comment: Emerging evidence of 2 different disease mechanisms: monoallelic distal myopathy may be caused by toxic gain of function and biallelic loss of function with variable onset myopathy with respiratory failure. There is more evidence for the biallelic myopathy with 3 families.
PMID: 36512060 - A single family with distal myopathy segregating a heterozygous missense variant (c.270T>A p.F90L). In vitro functional assays suggest a toxic gain of function mechanism of disease for p.F90L. Both Dnajb4F90L knock-in and Dnafjb4 knockout mice developed muscle weakness
PMID: 36264506 - 4 individuals from 3 unrelated families with myopathy with early respiratory failure with homozygous variants (c.856A > T; p.Lys286Ter, c.74G > A; p.Arg25Gln, c.785 T > C; p.Leu262Ser). DNAJB4 knockout mice had muscle weakness and fibre atrophy with prominent diaphragm involvement and kyphosis, muscle and myotubes had myofibrillar disorganization and accumulated Z-disc proteins and protein chaperones.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 DES Bryony Thompson Classified gene: DES as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 DES Bryony Thompson Added comment: Comment on list classification: Myofibrillar myopathy is characterized by slowly progressive muscle weakness, from distal to proximal lower extremities
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.83 DES Bryony Thompson Gene: des has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.82 DES Bryony Thompson Classified gene: DES as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.82 DES Bryony Thompson Gene: des has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.81 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 27784775; 28635954; 31561939; 29306765
Phenotypes for gene: BICD2 were set to distal myopathy MONDO:0018949
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.80 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 34048612
Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 ADSSL1 Bryony Thompson Marked gene: ADSSL1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 ADSSL1 Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 ADSSL1 Bryony Thompson Classified gene: ADSSL1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.79 ADSSL1 Bryony Thompson Gene: adssl1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.78 ADSSL1 Bryony Thompson gene: ADSSL1 was added
gene: ADSSL1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to 26506222; 28268051; 34635388; 32646962
Phenotypes for gene: ADSSL1 were set to adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834
Review for gene: ADSSL1 was set to GREEN
gene: ADSSL1 was marked as current diagnostic
Added comment: Over 60 families reported mainly in Japan and Korea.
PMID: 26506222 - 4 individuals with adolescent-onset distal myopathy in 2 unrelated Korean families cosegregating compound heterozygous variants (p.D304N and p.I350fs). In vitro assays demonstrated reduced enzyme activity and cell viability and supporting zebrafish model.
PMID: 28268051 - 4 unrelated Korean distal myopathy cases with biallelic variants
PMID: 34635388 - Turkish individual with distal myopathy and homozygous variant (c.989G>A, p.Ala300Thr) and Indian individual with proximal muscle weakness and homozygous variant (c.910G>A, p.Asp304Asn)
PMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.77 ACTN2 Bryony Thompson Marked gene: ACTN2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.77 ACTN2 Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.77 ACTN2 Bryony Thompson Classified gene: ACTN2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.77 ACTN2 Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.76 ACTN2 Bryony Thompson gene: ACTN2 was added
gene: ACTN2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 30900782; 34170073; 36116040; 34471957; 34386585
Phenotypes for gene: ACTN2 were set to Myopathy, distal, 6, adult onset MIM#618655
Mode of pathogenicity for gene: ACTN2 was set to Other
Review for gene: ACTN2 was set to GREEN
gene: ACTN2 was marked as current diagnostic
Added comment: At least 8 families segregating variants with dominant distal myopathy and 1 variant reported with recessive inheritance. Some functional evidence suggesting protein aggregation is the mechanism of disease
4 fams - PMID: 30900782 - 3 Spanish families segregating c.1459T>C p.(Cys487Arg) with distal myopathy & 1 Swedish family segregated c.392T>C p.(Leu131Pro)
1 fam - PMID: 34170073 - a frameshift c.2504delT, p. Phe835Serfs*66 resulting in C-terminal extension segregating with distal myopathy in a Chinese family. The proband was diagnosed with distal myopathy with multi‐minicores on muscle biopsy. In vitro assays demonstrated p. Phe835Serfs*66 and p. Leu131Pro resulted in protein aggregation, whereas p.C487R and p.L727R were similar to WT
1 fam - PMID: 36116040 - 2 individuals with distal myopathy in a Spanish family with the splice site variant c.1840‐2A>T, shown with RNA studies to lead to an in-frame deletion (r.1840_1878del p.(Val614_Gln626del)).
0 - PMID: 34471957 - 3 apparently unrelated Japanese probands with distal myopathy with the same homozygous missense - c.1439A>G p.(Asn480Ser). The variant appears to be associated with a recessive inheritance pattern but there is a suggestion of semidominance in one of the families. In vitro assays demonstrate the variant does not interfere with protein dimerisation and cellular localisation.
2 fams - PMID: 34386585 - c.2567del p.Pro856Argfs*45 and c.2558del p.Glu853Glyfs*48 resulting in C-terminal elongation identified in 3 individuals with distal myopathy from 2 families.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.74 Bryony Thompson Panel name changed from Limb Girdle Muscular Dystrophy to Limb-Girdle Muscular Dystrophy and Distal Myopathy
HPO terms changed from Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701 to Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701; Distal myopathy MONDO:0018949
List of related panels changed from Limb-girdle muscular dystrophy; MONDO:0016971;Proximal muscle weakness; HP:0003701 to Limb-girdle muscular dystrophy; MONDO:0016971; Proximal muscle weakness; HP:0003701; Distal myopathy MONDO:0018949
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.73 POGLUT1 Bryony Thompson Publications for gene: POGLUT1 were set to 27807076; 29034878
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.72 POGLUT1 Bryony Thompson Classified gene: POGLUT1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.72 POGLUT1 Bryony Thompson Gene: poglut1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.71 POGLUT1 Bryony Thompson reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807076, 31897643; Phenotypes: autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0014977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.70 Zornitza Stark HPO terms changed from to Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701
List of related panels changed from to Limb-girdle muscular dystrophy; MONDO:0016971;Proximal muscle weakness; HP:0003701
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Marked gene: DNMT3B as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Gene: dnmt3b has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Classified gene: DNMT3B as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.69 DNMT3B Bryony Thompson Gene: dnmt3b has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.68 DNMT3B Bryony Thompson gene: DNMT3B was added
gene: DNMT3B was added to Limb Girdle Muscular Dystrophy. Sources: Literature
Mode of inheritance for gene: DNMT3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3B were set to 27153398; 33004076
Phenotypes for gene: DNMT3B were set to Facioscapulohumeral muscular dystrophy MONDO:0001347
Review for gene: DNMT3B was set to AMBER
Added comment: FSHD shares some features with LGMD.
Two families reported with FSHD2. In one family carriers of the heterozygous DNMT3B missense variant (c.1579T>C) had reduced DNA methylation levels at the D4Z4 repeat array and were more likely to develop FSHD in comparison to other family members carrying an identical permissive 4qA allele of 9 D4Z4 units. In the other family, digenic inheritance of a heterozygous DNMT3B missense variant (c.2072C>T) and a permissive 4qA allele of 13 D4Z4 units induced hypomethylation at the D4Z4 repeat array but only one of the two family members was diagnosed with FSHD. A mouse model with an in-frame deletion (similar to the reported missense variants) does not induce a skeletal muscle pathology nor does it increase the extremely low DUX4 transcript levels in skeletal muscles of a FSHD transgenic mouse. The mouse model also suggested that Smchd1 may have a more potent role in DUX4 derepression than Dnmt3b.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.67 LRIF1 Bryony Thompson Marked gene: LRIF1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.67 LRIF1 Bryony Thompson Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.67 LRIF1 Bryony Thompson Classified gene: LRIF1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.67 LRIF1 Bryony Thompson Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.66 LRIF1 Bryony Thompson gene: LRIF1 was added
gene: LRIF1 was added to Limb Girdle Muscular Dystrophy. 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 MONDO:0001347
Review for gene: LRIF1 was set to AMBER
Added comment: FSHD shares some similar features with LGMD.
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
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 SMCHD1 Bryony Thompson Marked gene: SMCHD1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 SMCHD1 Bryony Thompson Gene: smchd1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 SMCHD1 Bryony Thompson Classified gene: SMCHD1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 SMCHD1 Bryony Thompson Gene: smchd1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.64 SMCHD1 Bryony Thompson gene: SMCHD1 was added
gene: SMCHD1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMCHD1 were set to 20301616
Phenotypes for gene: SMCHD1 were set to Facioscapulohumeral muscular dystrophy MONDO:0001347
Review for gene: SMCHD1 was set to GREEN
gene: SMCHD1 was marked as current diagnostic
Added comment: FSHD can have overlapping features with LGMD
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 CRYAB Teresa Zhao Deleted their review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 CRYAB Teresa Zhao reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31215171; Phenotypes: Myofibrillar myopathy, fatal infantile hypertonic, alpha-B crystallin-related (MIM#613869); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Marked gene: SGCA as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099 to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.62 SGCA Zornitza Stark Publications for gene: SGCA were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 SGCB Samantha Ayres reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 30919934, 25862795; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 SGCA Samantha Ayres reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 TNPO3 Zornitza Stark Marked gene: TNPO3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 TNPO3 Zornitza Stark Gene: tnpo3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.61 TNPO3 Zornitza Stark Publications for gene: TNPO3 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.60 TNPO3 Zornitza Stark Mode of pathogenicity for gene: TNPO3 was changed from to Other
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 TNPO3 Teresa Zhao reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23667635, 23543484, 31071488, 31192305; Phenotypes: Limb-girdle muscular dystrophy 2 (MIM#608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature; to: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Marked gene: POPDC3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Classified gene: POPDC3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 POPDC3 Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.58 POPDC3 Zornitza Stark gene: POPDC3 was added
gene: POPDC3 was added to Limb Girdle Muscular Dystrophy. Sources: Literature
Mode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC3 were set to 31610034
Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
Review for gene: POPDC3 was set to GREEN
Added comment: 5 affected individuals from 3 unrelated families reported, supportive animal model data.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.57 HNRNPDL Bryony Thompson Publications for gene: HNRNPDL were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson Marked gene: HNRNPDL as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 24647604, 31267206, 31995753, 32407983, 32904822, 32367994; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 CAPN3 Zornitza Stark Publications for gene: CAPN3 were set to 31937337; 28881388; 32342993
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.55 CAPN3 Kristin Rigbye edited their review of gene: CAPN3: Changed publications: 32557990, 32342993
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.55 CAPN3 Kristin Rigbye reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32557990, 32342993; Phenotypes: CAPN3-related muscular dystrophy, AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.55 CAPN3 Kristin Rigbye Deleted their review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.55 CAPN3 Zornitza Stark Publications for gene: CAPN3 were set to 31937337; 28881388
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.54 CAPN3 Zornitza Stark Mode of inheritance for gene: CAPN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.53 CAPN3 Kristin Rigbye reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32342993; Phenotypes: Autosomal recessive limb-girdle muscular dystrophy 1 (MIM#253600), Autosomal dominant limb-girdle muscular dystrophy 4 (MIM#618129); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.53 ISPD Zornitza Stark Marked gene: ISPD as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.53 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.53 ISPD Zornitza Stark Publications for gene: ISPD were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.52 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23390185, 30060766, 28688748, 26404900; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Marked gene: LPIN1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Classified gene: LPIN1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.50 GAA Zornitza Stark Marked gene: GAA as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.50 GAA Zornitza Stark Added comment: Comment when marking as ready: Metabolic condition with phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.50 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.50 GAA Zornitza Stark Classified gene: GAA as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.50 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.49 GNE Zornitza Stark Marked gene: GNE as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.49 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.49 GNE Zornitza Stark Classified gene: GNE as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.49 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 FLNC Zornitza Stark Marked gene: FLNC as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 FLNC Zornitza Stark Added comment: Comment when marking as ready: Causes a range of conditions affecting muscle, phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 LAMP2 Zornitza Stark Classified gene: LAMP2 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 ETFDH Zornitza Stark Added comment: Comment when marking as ready: Metabolic disorder with phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 ETFDH Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 ETFDH Zornitza Stark Classified gene: ETFDH as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 ETFDH Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.45 DOK7 Zornitza Stark Classified gene: DOK7 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.45 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.44 LMNA Zornitza Stark Marked gene: LMNA as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.44 LMNA Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.44 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.44 LMNA Zornitza Stark Classified gene: LMNA as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.44 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.43 LMNA Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.43 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.42 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.42 CRYAB Zornitza Stark Gene: cryab has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.42 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869 to Myopathy, myofibrillar, 2, MIM# 608810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.41 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.40 CRYAB Zornitza Stark Classified gene: CRYAB as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.40 CRYAB Zornitza Stark Gene: cryab has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 CRYAB Zornitza Stark reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, myofibrillar, 2, MIM# 608810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 DES Zornitza Stark Marked gene: DES as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 DES Zornitza Stark Added comment: Comment when marking as ready: Variable presentation, some overlap with LGMD.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 DES Zornitza Stark Gene: des has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 DES Zornitza Stark Classified gene: DES as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.39 DES Zornitza Stark Gene: des has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.38 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.38 MYH7 Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.38 MYH7 Zornitza Stark Classified gene: MYH7 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.38 MYH7 Zornitza Stark Gene: myh7 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.37 MYOT Zornitza Stark Marked gene: MYOT as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.37 MYOT Zornitza Stark Added comment: Comment when marking as ready: Some of the reported variants have high population frequency.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.37 MYOT Zornitza Stark Gene: myot has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.37 MYOT Zornitza Stark Classified gene: MYOT as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.37 MYOT Zornitza Stark Gene: myot has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.36 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.36 ORAI1 Zornitza Stark Gene: orai1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.36 ORAI1 Zornitza Stark Classified gene: ORAI1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.36 ORAI1 Zornitza Stark Gene: orai1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 2 (MIM#615883); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 GAA Elena Savva gene: GAA was added
gene: GAA was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to PMID: 29880332
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Review for gene: GAA was set to GREEN
Added comment: PMID: 29880332 - 16 adult patients (9 families) with Pombe disease. Proximal muscle weakness (12/16) and elevated CK were reported. Muscle biopsy showed vacuoles in 4/9 patients. Patients were described as having LGMD.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 GNE Crystle Lee gene: GNE was added
gene: GNE was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 22883483
Phenotypes for gene: GNE were set to Nonaka myopathy (MIM#605820)
Review for gene: GNE was set to AMBER
Added comment: Primarily a distal myopathy however proximal muscle weakness have also been reported. Limited evidence supporting LGMD phenotype.

PMID: 22883483: Half the patients reported with LGMD type proximal muscle weakness.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 FLNC Elena Savva gene: FLNC was added
gene: FLNC was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to PMID: 29858533
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Mode of pathogenicity for gene: FLNC was set to Other
Review for gene: FLNC was set to GREEN
Added comment: Myofibrillar myopathy - LOF
Distal myopathy - GOF
Cardiomyopathy, familial hypertrophic - LOF PTCs

PMID: 29858533 - 4 patients with both restrictive cardiomyopathy and congenital myopathy. 4/4 displayed limb girdle muscle weakness, where 1/4 was mild.
3/4 also presented with arthrogryposis
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 LAMP2 Crystle Lee gene: LAMP2 was added
gene: LAMP2 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 27179547; 22541782
Phenotypes for gene: LAMP2 were set to Danon disease (MIM#300257)
Review for gene: LAMP2 was set to AMBER
Added comment: Primarily presents as a cardiomyopathy condition, skeletal myopathy is less prominent and generally mild. Phenotypic overlap, proximal muscle weakness (85% of patients) (OMIM)

PMID: 27179547: 2 out of 7 affected members of 1 family presented with LGMD.

PMID: 22541782: Reported 2 patients. 1 patient presented with LGMD phenotype. EMG showed myopathic changes.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 ETFDH Elena Savva gene: ETFDH was added
gene: ETFDH was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to PMID: 19592060; 17412732
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Review for gene: ETFDH was set to AMBER
Added comment: PMID: 19592060 - 1 adult patient reported with weakness in pelvic girdle muscles

PMID: 17412732 - 7 patients (5 families) with exercise intolerance and proximal myopathy with elevated CK levels. Onset ranged from childhood to adult-onset. Muscle histology in all five index cases revealed similar findings: moderate to severe myopathy with small vacuoles in most type 1 fibres. Patient also had subacute (3–6 months) exercise intolerance and proximal weakness affecting predominantly hip and shoulder girdle muscles.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 DOK7 Elena Savva gene: DOK7 was added
gene: DOK7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to PMID: 31453852; 32360404
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10 254300
Review for gene: DOK7 was set to GREEN
Added comment: PMID: 31453852 - two adult patients with PTC variants and severe proximal muscle weakness with childhood onset. Condition is described as limb girdle myasthenia. Patient 1 had shoulder abduction and severe weakness of the pelvic girdle, patient 2 had muscle biopsy reveal muscle fibre II atrophy.

PMID: 32360404 - one adult patient with late onset atypical limb-girdle pattern of muscle weakness. Biopsy of deltoid muscle shows no features of MD.

PMID: 18626973 - 16 patients report proximal limb weakness, where 10 report neonatal onset.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 LMNA Crystle Lee gene: LMNA was added
gene: LMNA was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNA were set to 27220833; 23746545; 17377071
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)
Mode of pathogenicity for gene: LMNA was set to Other
Review for gene: LMNA was set to AMBER
Added comment: Phenotypic overlap, Formerly known as Limb-girdle muscular dystrophy 1B (LGMD1B) but has been reclassified as EDMD (OMIM)

PMID: 27220833: 1 late onset patient with LGMD

PMID: 23746545: Late onset patient with severe LGMD

PMID: 17377071: Later onset phenotypes may be associated with LoF while dominant negative variants result in childhood onset disease
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 CRYAB Elena Savva gene: CRYAB was added
gene: CRYAB was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CRYAB were set to PMID: 21337604; 32420686
Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar, 2 608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related 613869
Review for gene: CRYAB was set to AMBER
Added comment: PMID: 21337604 - 8 children with the same homozygous founder mutation and infantile onset muscular dystrophy. Truncal muscles reported to be more affected than limb muscles, phenotype was recapitulated in mouse models.

PMID: 32420686 - monozygotic twin boys with a heterozygous PTC mutation. Patients showed congenital hypotonia, slightly elevated CK levels. Focal signs of muscle degeneration were observed, no particular mention of the location of muscle weakness.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 DES Elena Savva gene: DES was added
gene: DES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DES were set to PMID: 20718792
Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 601419
Review for gene: DES was set to AMBER
Added comment: PMID: 20718792: large review of >100 patients. >70% had myopathy or muscle weakness, 67% presented with both distal and proximal muscle weakness.
Authors note myopathy generally begins with distal limbs, progressing later in life to proximal limb involvement.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 LPIN1 Crystle Lee gene: LPIN1 was added
gene: LPIN1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN1 were set to 28649549; 18817903; 32410653
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200)
Review for gene: LPIN1 was set to AMBER
Added comment: Biallelic variants reported in>5 families. Rhabdomyolysis is a significant feature. Patients present with muscle weakness and elevated CK. Added as a differential diagnosis to LGMD (PanelApp UK)
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 MYH7 Crystle Lee gene: MYH7 was added
gene: MYH7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to 27387980; 20733148
Phenotypes for gene: MYH7 were set to Laing distal myopathy (MIM#160500); Scapuloperoneal syndrome, myopathic type (MIM#181430)
Mode of pathogenicity for gene: MYH7 was set to Other
Review for gene: MYH7 was set to AMBER
Added comment: Associated with a spectrum of skeletal myopathies which includes a scapuloperoneal or limb-girdle muscle form.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 MYOT Crystle Lee gene: MYOT was added
gene: MYOT was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYOT were set to 30055862; 21336781; 15947064
Phenotypes for gene: MYOT were set to Myopathy, myofibrillar, 3 (MIM#609200)
Review for gene: MYOT was set to AMBER
Added comment: Associated phenotype was previously known as LGMD1/LGMD1A (OMIM; PMID: 30055862). Phenotypic overlap.

PMID: 21336781: Reported a severe case of LGMD. Patient presented with late onset progressive proximal muscle weakness. CK was slightly elevated. Authors concluded that gene is a rare cause of adult onset LGMD. Variant present in gnomAD (12 hets).

PMID: 15947064: 5 variants reported in 13 patients (including 3 families). Late onset, EMG showed myopathic changes in most patients. Highest MAF (10 hets in gnomAD; Ser60Phe). 9/13 did not show elevated CK levels.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 ORAI1 Crystle Lee gene: ORAI1 was added
gene: ORAI1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 (MIM#615883)
Review for gene: ORAI1 was set to AMBER
Added comment: OMIM notes both proximal and diffuse muscle weakness. There is some phenotypic overlap.

PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 PFKM Zornitza Stark Marked gene: PFKM as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 PFKM Zornitza Stark Added comment: Comment when marking as ready: Some phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 PFKM Zornitza Stark Gene: pfkm has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 PFKM Zornitza Stark Classified gene: PFKM as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 PFKM Zornitza Stark Gene: pfkm has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.34 POMK Zornitza Stark Marked gene: POMK as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.34 POMK Zornitza Stark Gene: pomk has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.34 POMK Zornitza Stark Publications for gene: POMK were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.33 POMK Zornitza Stark Classified gene: POMK as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.33 POMK Zornitza Stark Gene: pomk has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.32 CAV3 Zornitza Stark Marked gene: CAV3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.32 CAV3 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.32 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.32 CAV3 Zornitza Stark Classified gene: CAV3 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.32 CAV3 Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.31 PYGM Zornitza Stark Marked gene: PYGM as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.31 PYGM Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.31 PYGM Zornitza Stark Gene: pygm has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.31 PYGM Zornitza Stark Classified gene: PYGM as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.31 PYGM Zornitza Stark Gene: pygm has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 CASQ1 Zornitza Stark Marked gene: CASQ1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 CASQ1 Zornitza Stark Added comment: Comment when marking as ready: Founder variant, but large number of affected individuals reported. Italian, rather than rare, isolated ethnicity.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 CASQ1 Zornitza Stark Gene: casq1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 CASQ1 Zornitza Stark Classified gene: CASQ1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 CASQ1 Zornitza Stark Gene: casq1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.29 CASQ1 Zornitza Stark Tag founder tag was added to gene: CASQ1.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.29 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to 30515627
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.28 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.28 PYROXD1 Zornitza Stark Added comment: Comment when marking as ready: Mostly myopathy, some families reported with LGMD phenotype.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.28 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.28 PYROXD1 Zornitza Stark Classified gene: PYROXD1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.28 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 BVES Zornitza Stark Marked gene: BVES as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 BVES Zornitza Stark Gene: bves has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.27 BVES Zornitza Stark Publications for gene: BVES were set to PMID: 26642364 32528171 31119192
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.26 BVES Zornitza Stark Classified gene: BVES as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.26 BVES Zornitza Stark Gene: bves has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 BAG3 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 BAG3 Zornitza Stark Classified gene: BAG3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 ACTA1 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.24 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to PMID: 28606400; 25938801
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.23 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from ?Myopathy, scapulohumeroperoneal 616852 to Myopathy, scapulohumeroperoneal 616852
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.22 ACTA1 Zornitza Stark Classified gene: ACTA1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.22 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.21 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.21 ACADVL Zornitza Stark Added comment: Comment when marking as ready: Some phenotypic overlap in view of reports of raised CK, and some individuals having clinical diagnosis of LGMD.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.21 ACADVL Zornitza Stark Gene: acadvl has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.21 ACADVL Zornitza Stark Classified gene: ACADVL as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.21 ACADVL Zornitza Stark Gene: acadvl has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.20 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 1 (MIM#160565), Stormorken syndrome (MIM#185070); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.20 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.20 STIM1 Zornitza Stark Gene: stim1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.20 STIM1 Zornitza Stark Classified gene: STIM1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.20 STIM1 Zornitza Stark Gene: stim1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 VMA21 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap with LGMD.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 VMA21 Zornitza Stark Gene: vma21 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 VMA21 Zornitza Stark Classified gene: VMA21 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.19 VMA21 Zornitza Stark Gene: vma21 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 VMA21 Zornitza Stark Tag deep intronic tag was added to gene: VMA21.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 PFKM Crystle Lee gene: PFKM was added
gene: PFKM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 24427140; 27066546; 30792690
Phenotypes for gene: PFKM were set to Glycogen storage disease VII (MIM#232800)
Review for gene: PFKM was set to AMBER
Added comment: Metabolic myopathy gene due to accumulation of glycogen in muscle tissue. Unsure if consisten with LGMD phenotype.

PMID: 24427140: Adult patient reported with lifelong muscle weakness.

PMID: 27066546: 2 siblings reported with glycogen storage disease. Juvenile onset exercise intolerance. Muscle biopsy showed myopathic changes in both siblings.

PMID: 30792690: 1 adult patient reported, onset at 33. Presented with mild proximal muscle weakness, mainly in the lower limbs.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 POMK Crystle Lee reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24556084, 24925318, 29910097; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (MIM#616094); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 CAV3 Elena Savva gene: CAV3 was added
gene: CAV3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAV3 were set to PMID: 27312022; 26185955; 32090499
Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072
Review for gene: CAV3 was set to AMBER
Added comment: PMID: 27312022 - 8 patients (7 families) with exercise intolerance (7/8), muscle atrophy (2/8) and rhabdomyolysis (2/8). Functional studies show a 50% reduction in protein from patient cells vs controls. Age at onset ranged from 7 years old to 30s, with 3/8 patients presenting <18 years of age.

PMID: 26185955 - 2 patients with muscle hypertrophy
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 PYGM Crystle Lee gene: PYGM was added
gene: PYGM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 29143597; 25914343
Phenotypes for gene: PYGM were set to McArdle disease (MIM#232600)
Review for gene: PYGM was set to AMBER
Added comment: Well established gene disease association. McArdle disease is "one of the most frequent metabolic myopathies". Included in this panel as a differential diagnosis to LGMD (PanelApp Uk)
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 CASQ1 Elena Savva gene: CASQ1 was added
gene: CASQ1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CASQ1 were set to PMID: 26136523; 30258016
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates 616231
Review for gene: CASQ1 was set to GREEN
Added comment: PMID: 26136523 - 3 unrelated families (10 patients) with a founder missense (p.Asp244Gly) with muscle weaknesses. All patients reported adult onset. 1 proband reported lower limb hypertrophy with normal EMG results. 6 patients had muscle biopsy, with minimal fibre size variation, and a few central nuclei.

PMID: 30258016 - 12 families (22 patients), or which 21 had the recurring p.Asp244Gly mutation. Patients all had adult onset, elevated CK, with slowly progressive proximal weakness with quadriceps atrophy and scapular winging. Pelvic girdle weakness was reported in 4/22 patients.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 PYROXD1 Crystle Lee reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833; Phenotypes: Myopathy, myofibrillar, 8 (MIM#617258); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 BVES Elena Savva gene: BVES was added
gene: BVES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BVES were set to PMID: 26642364 32528171 31119192
Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Review for gene: BVES was set to GREEN
Added comment: OMIM: aka POPDC1

PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 BAG3 Elena Savva gene: BAG3 was added
gene: BAG3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to PMID: 25208129; 22734908; 30061062
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954
Review for gene: BAG3 was set to GREEN
Added comment: OMIM notes onset is in late childhood to early teens. Mutation p.Pro209Leu is recurring.

PMID: 25208129 - 1 heterozygous patient with lower limb weakness and onset at 34 years.

PMID: 22734908 - 4 patients with heterozygous mutations.
Patient 1 - onset at 13 years old with lumbar spine rigidity, finger flexion constractures and distal wasting in upper/lower limbs.
Patient 2 - onset 8 years old with muscle stiffness in lower limbs and distal wasting at 12 years old.
Patient 3 - lower limb deformity at 7 years old with declining mobility by 11 years of age.
Patient 4 - Unknown onset but wheelchair bound by 14 years old.

PMID: 30061062 - 1 patient with a de novo mutation, and childhood onset proximal muscle weakness and atrophy, with elevated CK.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 ACTA1 Elena Savva gene: ACTA1 was added
gene: ACTA1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTA1 were set to PMID: 28606400; 25938801
Phenotypes for gene: ACTA1 were set to ?Myopathy, scapulohumeroperoneal 616852
Review for gene: ACTA1 was set to GREEN
Added comment: PMID: 28606400 - 1 multigenerational family with dominant ACTA1-scapuloperoneal
myopathy. Proband has progressive limb weakness since childhood, spinal muscular atrophy based on two EMG analyses. Affected carrier children also reported upper limb weakness with onset in chlidhood/teenage years.

PMID: 25938801 - 1 large family (14 affecteds) with dominant ACTA1-scapuloperoneal myopathy. Muscle biopsy specimens demonstrated type I fiber atrophy. Many reported upper and lower body muscle weakness, with age of onset variable between early childhood and adulthood.

PMID: 15832616 - 1 child with a de novo missense mutation, proximal muscle weakness and hypotonia of the shoulder girdle
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 ACADVL Elena Savva gene: ACADVL was added
gene: ACADVL was added to Limb Girdle Muscular Dystrophy. Sources: Expert list
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to PMID: 9546340; 32558070; 22097235; 24305961
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Review for gene: ACADVL was set to AMBER
Added comment: PMID: 9546340 - 4/15 patients developed elevated CK levels and rhabdomyolysis within the first year of life. No mention of myopathy or specific dystrophic features.

PMID: 32558070 - 6 unrelated patients with adult-onset VLCAD deficiency. 4/6 had muscle weakness of the neck flexion, arms abduction and elbow flexion. CK levels varied among the patients, though most were elevated.
Four patients had an EMG showed myopathic changes of the upper and lower limbs, one did not report muscle weakness.
Only 1/6 patients were reported with significant changes on muscle MRI.

PMID: 22097235 - One 18 year old patient with persistent muscle cramps, elevated CK levels. Patient was diagnosed with limb girdle MD, at 21 years old struggled to climb stairs or walk

PMID: 24305961 - 8/12 patients reported either muscle pain and/or exercise intolerance, 9/12 had elevated CK levels. VLCADD patients showed predominantly proximal T1W SI changes.

Summary: dystrophic changes have been reported but does not appear to be a common feature
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 STIM1 Crystle Lee gene: STIM1 was added
gene: STIM1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STIM1 were set to 31448844
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1 (MIM#160565); Stormorken syndrome (MIM#185070)
Mode of pathogenicity for gene: STIM1 was set to Other
Review for gene: STIM1 was set to GREEN
Added comment: Dominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)

PMID: 31448844: Review article. Dominant STIM1 missense variants exert gain of function effect. Variants in EF hand reported in >3 families with childhood and adulthood onset of LGMD.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 VMA21 Crystle Lee gene: VMA21 was added
gene: VMA21 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: VMA21 were set to 27916343; 25809233; 23315026
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440)
Review for gene: VMA21 was set to AMBER
Added comment: Childhood onset muscle disease, primarily affecting proximal muscles and elevated CK. No other muscle group involvement. Characterize by progressive muscle weakness with a limb-girdle pattern (PMID: 25809233). Differential diagnosis with LGMD (PanelApp UK)

Intronic variants in multiple families. Onset in childhood

PMID: 25809233: Different splice site variants reported in 2 families, onset in childhood.

PMID: 23315026: 5 splice region and 1 missense reported in 14 families with multiple affected. Quantitative RT-PCR from patient fibroblasts demonstrated reduction in VMA21 mRNA.
Sources: Expert Review
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 SGCG Zornitza Stark Marked gene: SGCG as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 SGCG Zornitza Stark Gene: sgcg has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 SGCG Zornitza Stark Publications for gene: SGCG were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.17 SGCG Zornitza Stark reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838351, 25802879; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, MIM# 253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.17 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.17 CAPN3 Zornitza Stark Gene: capn3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.17 CAPN3 Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A, 253600 to Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129; Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.16 CAPN3 Zornitza Stark Publications for gene: CAPN3 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.15 CAPN3 Zornitza Stark Mode of inheritance for gene: CAPN3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.14 CAPN3 Zornitza Stark reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129, Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.14 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.14 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.14 POGLUT1 Zornitza Stark Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.13 POGLUT1 Zornitza Stark Publications for gene: POGLUT1 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.12 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.12 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.11 TCAP Zornitza Stark Marked gene: TCAP as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.11 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.11 TCAP Zornitza Stark Publications for gene: TCAP were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.10 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.10 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.10 TRAPPC11 Zornitza Stark Publications for gene: TRAPPC11 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.9 POGLUT1 Crystle Lee reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 29034878; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.9 TCAP Crystle Lee reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25055047, 22029105, 18948002; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.9 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.9 ANO5 Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.9 ANO5 Zornitza Stark Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319 to Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.8 ANO5 Zornitza Stark Publications for gene: ANO5 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 ANO5 Zornitza Stark reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20096397 32399949; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 12 611307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 TRAPPC11 Crystle Lee reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 PNPLA2 Zornitza Stark Marked gene: PNPLA2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 PNPLA2 Zornitza Stark Classified gene: PNPLA2 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.7 PNPLA2 Zornitza Stark Gene: pnpla2 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 PNPLA2 Elena Savva gene: PNPLA2 was added
gene: PNPLA2 was added to Limb Girdle Muscular Dystrophy. Sources: Literature
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to PMID: 32269696; 21544567
Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717
Review for gene: PNPLA2 was set to GREEN
Added comment: PMID: 32269696 - 1 patient with both upper and lower limb weakness. She had elevated CK levels, with onset >25 years old.

PMID: 21544567 - 6 patients with distal muscle weakness, shoulder girdle weakness and elevated CK levels. Severe dystrophic features of the shoulder girdle noted in 3/3 patients analysed by whole body MRI. Proximal muscle weakness was generalised first, with lower limbs affected in the 3rd/4th decade of life. Earliest age of onset 29 years old, 5/6 patients had homozygous PTCs.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Marked gene: DYSF as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Gene: dysf has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.6 DYSF Zornitza Stark Publications for gene: DYSF were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.5 DNAJB6 Zornitza Stark Publications for gene: DNAJB6 were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 DYSF Crystle Lee reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23243261; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 2 (MIM#253601); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 DNAJB6 Crystle Lee reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 (MIM#603511); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.3 DPM3 Bryony Thompson Classified gene: DPM3 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.3 DPM3 Bryony Thompson Gene: dpm3 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.2 DPM3 Bryony Thompson gene: DPM3 was added
gene: DPM3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565; 28803818; 31266720
Phenotypes for gene: DPM3 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
Review for gene: DPM3 was set to GREEN
Added comment: >3 cases with limb girdle muscular dystrophy, adult onset reported.
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.1 Bryony Thompson Panel name changed from Limb Girdle Muscular Dystrophy_RMH to Limb Girdle Muscular Dystrophy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRAPPC11 Bryony Thompson gene: TRAPPC11 was added
gene: TRAPPC11 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TNPO3 Bryony Thompson gene: TNPO3 was added
gene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TCAP Bryony Thompson gene: TCAP was added
gene: TCAP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SYNE1 Bryony Thompson gene: SYNE1 was added
gene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCG Bryony Thompson gene: SGCG was added
gene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCD Bryony Thompson gene: SGCD was added
gene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCB Bryony Thompson gene: SGCB was added
gene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCA Bryony Thompson gene: SGCA was added
gene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PYROXD1 Bryony Thompson gene: PYROXD1 was added
gene: PYROXD1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 30515627
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT2 Bryony Thompson gene: POMT2 was added
gene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT1 Bryony Thompson gene: POMT1 was added
gene: POMT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMK Bryony Thompson gene: POMK was added
gene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT2 Bryony Thompson gene: POMGNT2 was added
gene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POGLUT1 Bryony Thompson gene: POGLUT1 was added
gene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PLEC Bryony Thompson gene: PLEC was added
gene: PLEC was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Muscular dystrophy with epidermolysis bullosa simplex, 226670
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 MTM1 Bryony Thompson gene: MTM1 was added
gene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 LAMA2 Bryony Thompson gene: LAMA2 was added
gene: LAMA2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ISPD Bryony Thompson gene: ISPD was added
gene: ISPD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 HNRNPDL Bryony Thompson gene: HNRNPDL was added
gene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FHL1 Bryony Thompson gene: FHL1 was added
gene: FHL1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
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 Emery-Dreifuss muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 EMD Bryony Thompson gene: EMD was added
gene: EMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EMD 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: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DYSF Bryony Thompson gene: DYSF was added
gene: DYSF was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, type 2B, 253601
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DNAJB6 Bryony Thompson gene: DNAJB6 was added
gene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DMD 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: DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DAG1 Bryony Thompson gene: DAG1 was added
gene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A2 Bryony Thompson gene: COL6A2 was added
gene: COL6A2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A1 Bryony Thompson gene: COL6A1 was added
gene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 CAPN3 Bryony Thompson gene: CAPN3 was added
gene: CAPN3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 Bryony Thompson Added panel Limb Girdle Muscular Dystrophy_RMH