Activity

Filter

Cancel
Date Panel Item Activity
1236 actions
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.41 RDH11 Ida Ertmanska Classified gene: RDH11 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.41 RDH11 Ida Ertmanska Added comment: Comment on list classification: There are 9 individuals from multiple unrelated families reported in literature with biallelic variants in RDH11 and juvenile-onset progressive myopathy. Hence, this gene should be promoted to Green at the next update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.41 RDH11 Ida Ertmanska Gene: rdh11 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.40 RDH11 Ida Ertmanska gene: RDH11 was added
gene: RDH11 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Q2_26_promote_green tags were added to gene: RDH11.
Mode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RDH11 were set to 24916380; 34988992; 41459630; 41904678
Phenotypes for gene: RDH11 were set to ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108; Neurodevelopmental delay, HP:0012758; Juvenile cataract, HP:0001118
Review for gene: RDH11 was set to GREEN
Added comment: PMID: 41904678 Radio et al., 2026
Report of 16 affected individuals from 9 unrelated families with biallelic LoF RDH11 variants, frequently showing juvenile-onset progressive myopathy with vacuolar degeneration and prodromic asymptomatic hyperCKemia. Common features included: neurodevelopmental impairment (16/16), microcephaly (10/16), retinitis pigmentosa (8/16), juvenile-onset cataracts (11/16), myopathy (8/15), progressive night blindness (9/16), hypoplasia of corpus callosum (8/10 assessed by MRI). Microcephaly and distinct craniofacial traits were also recurrent. Short stature was reported in 4/16 patients.
Muscle weakness was reported as slowly progressive, associated with myopathic facies and exercise intolerance with onset in the first or second decade of life.

PMID: 41459630 Stephenson et al., 2025
Report of a visually asymptomatic 7-year-old boy carrying a homozygous null variant in RDH11 [NM_016026.4:c.216C>A:p.(Cys72*)] with autism, dysmorphic features, oligodontia, microcephaly (<3rd centile) and a novel inherited retinal dystrophy. This retinopathy consisted of yellow deposits and hyperpigmentation within the RPE with absent autofluorescence and a normal electroretinogram.

PMID: 34988992 Liu et al., 2022
Chinese patient with retinitis pigmentosa (RP), juvenile cataracts, intellectual disability, and myopathy. No microcephaly. Trio WES identified variants in RDH11: c.938T>C (p.Leu313Pro) and c.75-3C>A - confirmed in trans. Splice variant shown to cause exon 2 skipping resulting in (p.Lys26Serfs*38) change. Using immunofluorescence, authors found mislocalization of RDH11 protein in muscle cells of the patient.

PMID: 24916380 Xie et al., 2014
3 sibs aged 8-19 years (Italian-American family) with juvenile cataracts (onset at 8-10 years old), issues with night vision, and retinitis pigmentosa, as well as other syndromic features: facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. WES detected comp het RDH11 mutations c.C199T:p.R67* and c.C322T:p.R108*. No mention of muscle weakness or microcephaly.

RDH11 is putatively associated in OMIM with AR Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108 (accessed 1st Apr 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.39 PABPN1_GCN Ida Ertmanska changed review comment from: PMID: 27858728 Richard et al., 2015
Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele.

PMID: 28011929 Richard et al., 2017
French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings:
1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s.
2. Patients with biallelic variants present with more severe disease.
3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature; to: PMID: 27858728 Richard et al., 2015
Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele.

PMID: 28011929 Richard et al., 2017
French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings:
1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s.
2. Patients with biallelic variants present with more severe disease.
3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation with low penetrance.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.39 PABPN1_GCN Ida Ertmanska Mode of inheritance for STR: PABPN1_GCN 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 dystrophies, myofibrillar myopathies and distal myopathies v5.38 PABPN1_GCN Ida Ertmanska PABPN1_CGN was changed to PABPN1_GCN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.37 PABPN1_CGN Ida Ertmanska Repeated Sequence for PABPN1_CGN was changed from CGN to GCN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.36 PABPN1_CGN Ida Ertmanska edited their review of STR: PABPN1_CGN: Changed publications to: 27858728, 28011929; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.36 PABPN1_CGN Ida Ertmanska Publications for STR: PABPN1_CGN were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 PABPN1_CGN Ida Ertmanska changed review comment from: Sources: Literature; to: PMID: 27858728 Richard et al., 2015
Case report of a male patients with disease onset at age 60 years - slowly progressive OPMD. He presented with dysphagia, mild ptosis (at 83 years), lower limb weakness. CT scan of lower limbs showed a hypodense aspect of glutei, posterior thigh and leg compartment muscles. CK slightly elevated. Muscle biopsy showed PABPN1 intranuclear inclusions. Classical Ala11 (GCN)11 expansion in PABPN1 detected. Dominant (though milder) disease despite harbouring the Ala11 "recessive" allele.

PMID: 28011929 Richard et al., 2017
French cohort of 354 unrelated index cases with Oculopharyngeal muscular dystrophy (OPMD) - an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. Key findings:
1. Patients with longer expansions have earlier disease onset (range of 11-17, 10 = WT). Earliest onset around age 30-40 years, late onset in 60s-70s.
2. Patients with biallelic variants present with more severe disease.
3. Reported 6 cases with heterozygous Ala11 allele, confirming that Ala11 can also act as a dominant mutation.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 PABPN1_CGN Ida Ertmanska edited their review of STR: PABPN1_CGN: Changed rating: GREEN; Changed publications to: 28011929
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 PABPN1_CGN Ida Ertmanska Classified STR: PABPN1_CGN as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.35 PABPN1_CGN Ida Ertmanska Str: pabpn1_cgn has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.34 PABPN1_CGN Ida Ertmanska STR: PABPN1_CGN was added
STR: PABPN1_CGN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for STR: PABPN1_CGN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for STR: PABPN1_CGN were set to Oculopharyngeal muscular dystrophy, OMIM:164300; oculopharyngeal muscular dystrophy, MONDO:0008116
Review for STR: PABPN1_CGN was set to AMBER
Added comment: Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.33 PABPN1 Ida Ertmanska Phenotypes for gene: PABPN1 were changed from Oculopharyngeal muscular dystrophy, OMIM:164300 to Oculopharyngeal muscular dystrophy, OMIM:164300; oculopharyngeal muscular dystrophy, MONDO:0008116
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.32 PABPN1 Ida Ertmanska Publications for gene: PABPN1 were set to 16648376; 27858728; 34225694; 36847015
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska edited their review of gene: PABPN1: Changed phenotypes to: Oculopharyngeal muscular dystrophy, OMIM:164300, oculopharyngeal muscular dystrophy, MONDO:0008116
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska edited their review of gene: PABPN1: Changed publications to: 16648376, 21742497, 34225694, 36847015
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska changed review comment from: PMID: 16648376 Robinson et al., 2006
Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped).

PMID: 21742497 Robinson et al., 2011
Report of 2 further cases with PABPN1 c.35G>C; p.Gly12Ala and OPMD.

PMID: 34225694 Nishii et al., 2021
Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation.

PMID: 36847015 Takahashi et al., 2023
Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature; to: PMID: 16648376 Robinson et al., 2006
Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped).

PMID: 21742497 Robinson et al., 2011
Report of 2 further cases with heterozygous PABPN1 c.35G>C; p.Gly12Ala and OPMD diagnosis.
Case 1 - male, bilateral ptosis and choking at 65 years old; no limb muscle weakness reported.
Case 2 - female, onset of swallowing difficulty around age 60, ptosis onset at age 65 years, muscle weakness reported in 70s. No vacuoles seen on deltoid muscle biopsy.

PMID: 34225694 Nishii et al., 2021
Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation.

PMID: 36847015 Takahashi et al., 2023
Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska changed review comment from: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.; to: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 contiguous alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska changed review comment from: PMID: 16648376 Robinson et al., 2006
Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped).

PMID: 34225694 Nishii et al., 2021
Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation.

PMID: 36847015 Takahashi et al., 2023
Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature; to: PMID: 16648376 Robinson et al., 2006
Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped).

PMID: 21742497 Robinson et al., 2011
Report of 2 further cases with PABPN1 c.35G>C; p.Gly12Ala and OPMD.

PMID: 34225694 Nishii et al., 2021
Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation.

PMID: 36847015 Takahashi et al., 2023
Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska edited their review of gene: PABPN1: Changed publications to: 16648376, 34225694, 36847015
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska Classified gene: PABPN1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska Added comment: Comment on list classification: There are at least 3 unrelated individuals reported in literature with heterozygous point mutations in PABPN1 and Oculopharyngeal muscular dystrophy. While the disease is most often caused by PABPN1 trinucleotide repeats, the recurrent heterozygous PABPN1 p.Gly12Ala mutation results in 13 alanine codons with the same pathogenic effect. Based on available evidence, this gene should be promoted to Green with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.31 PABPN1 Ida Ertmanska Gene: pabpn1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.30 PABPN1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: PABPN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.30 PABPN1 Ida Ertmanska gene: PABPN1 was added
gene: PABPN1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: PABPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PABPN1 were set to 16648376; 27858728; 34225694; 36847015
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy, OMIM:164300
Review for gene: PABPN1 was set to GREEN
Added comment: PMID: 16648376 Robinson et al., 2006
Cohort of 202 patients with tentative diagnosis of Oculopharyngeal muscular dystrophy; only sequenced exon 1 of PABPN1. Reported a case with OPMD (patient A, female, European, disease onset around 61 years) negative for the repeat expansion, heterozygous for PABPN1 c.35G>C; p.Gly12Ala variant. There was a pattern of dominant inheritance in the family (not genotyped).

PMID: 34225694 Nishii et al., 2021
Report of a 78 yo woman with oculopharyngeal muscular dystrophy - presented with ptosis and gradually progressive dysphagia (symptom onset at 62 years). A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. EMG of bulbar and facial muscles revealed a myopathic pattern. Her son had the same symptoms (ptosis and dysphasia). Sequencing revealed PABPN1 c.35G > C; p.Gly12Ala point mutation.

PMID: 36847015 Takahashi et al., 2023
Case report - 77 yo male patient with heterozygous PABPN1 c.34G > T (p.Gly12Trp) mutation, no polyalanine expansion detected. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness - disease onset around 60 yo. MRI revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Muscle biopsy sample revealed PABPN1-positive aggregates in the myonuclei - reported to be specific to OPMD.

PABPN1 is linked to AD Oculopharyngeal muscular dystrophy, OMIM:164300 (OMIM accessed 16 Mar 2026).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29 Ida Ertmanska Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.28 TNNI1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TNNI1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.28 TK2 Ida Ertmanska Publications for gene: TK2 were set to 22345218 23303857 24198295 31092255 25948719
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.27 TK2 Ida Ertmanska Phenotypes for gene: TK2 were changed from mitochondrial disease; limb girdle muscular dystrophy; congenital muscular dystrophy to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.26 TK2 Ida Ertmanska Classified gene: TK2 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.26 TK2 Ida Ertmanska Gene: tk2 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 TK2 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TK2.
Tag Q4_25_NHS_review tag was added to gene: TK2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 TK2 Ida Ertmanska changed review comment from: PMID: 24198295 Alston et al., 2013
A 74-year-old woman with sensorineural hearing loss, progressive muscle weakness and rapidly progressive respiratory failure. Compound het TK2 variants c.103C>T (p.Gln35*) and c.582G>T (p.Lys194Asn).

PMID: 35280287 Manini et al., 2022
55yo Italian woman; ptosis and dysphonia with onset at 8yo, dysphagia at 20yo, slowly progressive limb weakness reported in adulthood; compound het TK2 mutations: c.278A>G, p.Asn93Ser and c.543del, p.Leu182Phefs*11; mtDNA depletion demonstrated by qPCR in muscle tissue.

PMID: 37527940 Morganroth et al., 2023
Report of a 40yo male patient with muscle weakness (limb girdle weakness, chronic progressive external ophthalmoplegia, dysphagia) and respiratory failure; developed limb girdle weakness at 21yo; homozygous for TK2 c.604_606del (p.K202del). Mother confirmed a heterozygous carrier.

PMID: 38544965 Ceballos et al., 2024
Cohort of 53 Spanish patients with biallelic variants in TK2. 40% of patients presented with disease before 12yo. 50/53 patients had a diagnosis of mitochondrial myopathy based on muscle biopsy findings.

PMID: 40098049 Li et al., 2025
Female patient with early-onset lipid storage myopathy (onset at 8 months old); compound het variatns in TK2: c.311G > A (p.Arg104His) and a deletion spanning TK2 exons 5-10 (g.66545871_66565372del); COX negative fibers and accumulation of lipid droplets noted on biceps biopsy; detected decrease in TK2 protein and mtDNA copy number in patient muscle samples.
Based on literature review of 50 TK2-related myopathy cases, authors note that the same TK2 variant may cause variable onset and severity of disease between patients. Variable presentation of limb girdle muscle weakness, ptosis, respiratory failure, and facial weakness; range of congenital to adult disease onset.

TK2 is associated with AR Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM:609560 and putatively associated with AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM:617069 (OMIM accessed 15th Dec 2025).; to: PMID: 24198295 Alston et al., 2013
A 74-year-old woman with sensorineural hearing loss, progressive muscle weakness and rapidly progressive respiratory failure. Compound het TK2 variants c.103C>T (p.Gln35*) and c.582G>T (p.Lys194Asn).

PMID: 35280287 Manini et al., 2022
55yo Italian woman; ptosis and dysphonia with onset at 8yo, dysphagia at 20yo, slowly progressive limb weakness reported in adulthood; compound het TK2 mutations: c.278A>G, p.Asn93Ser and c.543del, p.Leu182Phefs*11; mtDNA depletion demonstrated by qPCR in muscle tissue.

PMID: 37527940 Morganroth et al., 2023
Report of a 40yo male patient with muscle weakness (limb girdle weakness, chronic progressive external ophthalmoplegia, dysphagia) and respiratory failure; developed limb girdle weakness at 21yo; homozygous for TK2 c.604_606del (p.K202del). Mother confirmed to be a heterozygous carrier.

PMID: 38544965 Ceballos et al., 2024
Cohort of 53 Spanish patients with biallelic variants in TK2. 40% of patients presented with disease before 12yo. 50/53 patients had a diagnosis of mitochondrial myopathy based on muscle biopsy findings.

PMID: 40098049 Li et al., 2025
Female patient with early-onset lipid storage myopathy (onset at 8 months old); compound het variants in TK2: c.311G > A (p.Arg104His) and a deletion spanning TK2 exons 5-10 (g.66545871_66565372del); COX negative fibers and accumulation of lipid droplets noted on biceps biopsy; detected decrease in TK2 protein and mtDNA copy number in patient muscle samples.
Based on literature review of 50 TK2-related myopathy cases, authors note that the same TK2 variant may cause variable onset and severity of disease between patients. Variable presentation of limb girdle muscle weakness, ptosis, respiratory failure, and facial weakness; range of congenital to adult disease onset.

TK2 is associated with AR Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM:609560 and putatively associated with AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM:617069 (OMIM accessed 15th Dec 2025).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 TK2 Ida Ertmanska commented on gene: TK2: Comment on list classification: There are numerous individuals reported in literature with biallelic TK2 variants and mitochondrial myopathy. Affected individuals may present with disease of variable severity and age of onset. The phenotype range includes progressive muscle weakness, ptosis, chronic progressive external ophthalmoplegia (CPEO), and respiratory failure. Based on available evidence, this gene should be promoted to Green for Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 TK2 Ida Ertmanska reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24198295, 35280287, 37527940, 38544965, 40098049; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 TNNI1 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: TNNI1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 SNUPN Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SNUPN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 JAG2 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: JAG2.
Tag Q2_25_ NHS_review was removed from gene: JAG2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 CIAO1 Arina Puzriakova Tag Q3_24_promote_green was removed from gene: CIAO1.
Tag Q3_24_NHS_review was removed from gene: CIAO1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 CIAO1 Arina Puzriakova Phenotypes for gene: CIAO1 were changed from CIAO1 associated neuromuscular disorder to Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 ACTN2 Arina Puzriakova Tag Q2_25_ MOI was removed from gene: ACTN2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 TNNI1 Arina Puzriakova commented on gene: TNNI1: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 SNUPN Arina Puzriakova reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 JAG2 Arina Puzriakova reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 CIAO1 Arina Puzriakova reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 ACTN2 Arina Puzriakova commented on gene: ACTN2
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 TNNI1 Arina Puzriakova Source NHS GMS was added to TNNI1.
Source Expert Review Green was added to TNNI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 SNUPN Arina Puzriakova Source NHS GMS was added to SNUPN.
Source Expert Review Green was added to SNUPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 JAG2 Arina Puzriakova Source Expert Review Green was added to JAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 CIAO1 Arina Puzriakova Source NHS GMS was added to CIAO1.
Source Expert Review Green was added to CIAO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 ACTN2 Arina Puzriakova Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 TK2 William Macken gene: TK2 was added
gene: TK2 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: NHS GMS
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 22345218 23303857 24198295 31092255 25948719
Phenotypes for gene: TK2 were set to mitochondrial disease; limb girdle muscular dystrophy; congenital muscular dystrophy
Penetrance for gene: TK2 were set to Complete
Review for gene: TK2 was set to GREEN
Added comment: This is already green in mitochondrial disease. It causes limb girdle muscular dystrophy and should be on this panel and the wider related panel other rare neuromuscular
Sources: NHS GMS
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 SVIL Eleanor Williams Tag watchlist tag was added to gene: SVIL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 SVIL Ida Ertmanska changed review comment from: PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myofibrillar myopathy. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement.
Seq method: WES/ targeted exome with Sanger confirmation.
Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence.
Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy.

SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025).
Sources: Literature; to: PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myopathy with myofibrillar disorganization. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement.
Seq method: WES/ targeted exome with Sanger confirmation.
Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence.
Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy.

SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 SVIL Ida Ertmanska changed review comment from: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myofibrillar myopathy. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges.; to: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myopathy with myofibrillar disorganization. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 SVIL Ida Ertmanska edited their review of gene: SVIL: Changed phenotypes to: Myofibrillar myopathy 10, OMIM:619040, myofibrillar myopathy 10, MONDO:0033620
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.22 SVIL Ida Ertmanska Phenotypes for gene: SVIL were changed from Myofibrillar myopathy 10, OMIM:619040 to Myofibrillar myopathy 10, OMIM:619040; myofibrillar myopathy 10, MONDO:0033620
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 SVIL Ida Ertmanska Classified gene: SVIL as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 SVIL Ida Ertmanska Added comment: Comment on list classification: There are 4 individuals from 2 unrelated families reported in literature with homozygous nonsense variants in SVIL, diagnosed with myofibrillar myopathy. This gene should be rated Amber on Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies until more evidence emerges.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.21 SVIL Ida Ertmanska Gene: svil has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 SVIL Ida Ertmanska edited their review of gene: SVIL: Changed rating: AMBER; Changed publications to: 32779703
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 SVIL Ida Ertmanska changed review comment from: Sources: Literature; to: PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myofibrillar myopathy. Muscle biopsy showed Structural myopathy with prominent lobulated type 1 fibres, myofibrillar disintegration and signs of altered proteostasis/impaired autophagy in all 4 affected individuals. All patients showed increased creatine kinase levels, but no or minor muscle weakness. Variable presentation, including muscle pain, slowly progressive stiffness, exercise intolerance, as well as distinct anomalies of neck and shoulder girdle; 3/4 patients presented with contractures. Very mild heart involvement.
Seq method: WES/ targeted exome with Sanger confirmation.
Family 1: Lebanese, 2 sibs affected, both homozygous for c.4812C>A, p.(Tyr1604*) - variant not in gnomAD v4.1.0. Symptom onset: childhood/adolescence.
Family 2: Turkish, 2 sibs affected, both homozygous for c.3578_3579del, p.(Val1193Glufs*46) - variant not in gnomAD v4.1.0; symptoms onset at birth/ in infancy.

SVIL is associated with AR Myofibrillar myopathy 10, MIM: 619040 (OMIM accessed 24th Nov 2025).
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.20 SVIL Ida Ertmanska gene: SVIL was added
gene: SVIL was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SVIL were set to Myofibrillar myopathy 10, OMIM:619040
Review for gene: SVIL was set to GREEN
Added comment: Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.19 HNRNPA1 Ida Ertmanska commented on gene: HNRNPA1: Comment on list classification: There are at least 7 unrelated individuals reported in literature with monoallelic variants in HNRNPA1 that presented with distal myopathy. Disease onset is either juvenile or in early adulthood. The affected individuals harboured stop-loss, missense, and frameshift variants, either de novo or shown to segregated with disease in an autosomal dominant manner. Other variants in this gene have been reported as causal for juvenile-onset ALS, multisystem proteinopathy, and distal hereditary motor neuropathy. There is currently little to no correlation between the location of the causative variant and the corresponding phenotype, and no precise understanding of the different disease mechanisms. Nonetheless, there is sufficient evidence for this gene-disease relationship. HNRNPA1 should be promoted to Green for Distal myopathies at the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.19 HNRNPA1 Ida Ertmanska Publications for gene: HNRNPA1 were set to 34291734; 34722876; 39072769
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.18 HNRNPA1 Ida Ertmanska Classified gene: HNRNPA1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.18 HNRNPA1 Ida Ertmanska Gene: hnrnpa1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.17 HNRNPA1 Ida Ertmanska edited their review of gene: HNRNPA1: Changed publications to: 34291734, 34722876, 35550112, 39072769
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.17 HNRNPA1 Ida Ertmanska changed review comment from: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

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

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

HNRNPA1 is associated with AD Amyotrophic lateral sclerosis 20, OMIM:615426, as well as provisionally linked to AD Myopathy, distal, 3, OMIM:610099 and Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 (OMIM accessed 30th Oct 2025).
Sources: Other; to: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

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

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

HNRNPA1 is associated with AD Amyotrophic lateral sclerosis 20, OMIM:615426, as well as provisionally linked to AD Myopathy, distal, 3, OMIM:610099 and Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 (OMIM accessed 30th Oct 2025).
Sources: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.17 HNRNPA1 Ida Ertmanska gene: HNRNPA1 was added
gene: HNRNPA1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Other
Q4_25_promote_green tags were added to gene: HNRNPA1.
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA1 were set to 34291734; 34722876; 39072769
Phenotypes for gene: HNRNPA1 were set to Myopathy, distal, 3 , OMIM:610099; distal myopathy, MONDO:0018949
Review for gene: HNRNPA1 was set to GREEN
Added comment: PMID: 39072769 Turner et al. 2024,
Two unrelated individuals with unsolved juvenile-onset myopathy with monoallelic stop loss variants in HNRNPA1. Probands presented with similar onset of slowly progressive extremity and facial weakness in early adolescence, both had elevated CK.
K1440-01 - heterozygous for c.1119A>C p.(*373Tyrext*6) - not in gnomAD v4
MNOT002-01 - heterozygous for c.1118A>C p.(*373Serext*6) - not in gnomAD v4

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

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

HNRNPA1 is associated with AD Amyotrophic lateral sclerosis 20, OMIM:615426, as well as provisionally linked to AD Myopathy, distal, 3, OMIM:610099 and Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 (OMIM accessed 30th Oct 2025).
Sources: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.

PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene.

The 'founder-effect' tag has been added as the same variant has been identified across populations.
Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.

PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene.

The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.

PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene.
Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.

PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene.

The 'founder-effect' tag has been added as the same variant has been identified across populations.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: ANXA11.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram Classified gene: ANXA11 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in ANXA11 gene to limb-girdle syndrome. Hence, this gene can be promoted to green rating in the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.16 ANXA11 Achchuthan Shanmugasundram Gene: anxa11 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 ANXA11 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ANXA11.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 ANXA11 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619733). OMIM was accessed on 30 September 2025.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.15 ANXA11 Achchuthan Shanmugasundram Phenotypes for gene: ANXA11 were changed from Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.14 ANXA11 Achchuthan Shanmugasundram changed review comment from: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.
Sources: Literature; to: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.

PMID:40730020 (2025) reported a 38-year-old Brazilian female patient with progressive limb weakness (more evident in proximal upper limbs and anterior compartment of the distal lower limbs), ophthalmoparesis, bilateral ptosis and bilateral scapular winging. She was identified with c.119A>T/ p.Asp40Val variant in ANXA11 gene.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.14 ANXA11 Achchuthan Shanmugasundram gene: ANXA11 was added
gene: ANXA11 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. 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; 36134701; 36651622; 40730020
Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514
Review for gene: ANXA11 was set to GREEN
Added comment: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy.

PMID:36134701 (2022) reported the identification of the same c.118G>T/ p.Asp40Tyr variant from ANXA11 gene in seven affected individuals from four large families from a relatively isolated island of Aegan Sea from Greece. Muscle weakness was first observed in all these patients in the third to fifth decade. The symptoms later progressed to proximal upper and lower limb weakness and distal lower limb weakness, All patients also presented with scapular winging.

PMID:36651622 (2023) reported a patient of Spanish descent with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy. The patient carried a different variant affecting the same Asp40 amino acid in ANXA11 gene (c.118_119delGAinsAT/ p.Asp40Ile). Progressive ptosis was noted in middle childhood, and Opthalmoparesis and neck flexor weakness appeared later but also in the first decade of life. From the age of 14, progressive axial and facial weakness was detected, as well as scapular winging and proximal and distal weakness, more pronounced in the lower extremities.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.13 GUK1 Arina Puzriakova Tag Q3_25_NHS_review was removed from gene: GUK1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.13 GUK1 Arina Puzriakova Entity copied from Mitochondrial disorders v9.26
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.13 GUK1 Arina Puzriakova gene: GUK1 was added
gene: GUK1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature,Expert Review Amber
Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: GUK1.
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21, OMIM:621071
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.12 SRPK3 Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).; to: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the panel as Green (no evidence for monogenic association).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.12 SRPK3 Arina Puzriakova Classified gene: SRPK3 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.12 SRPK3 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber to show that there is sufficient evidence to support this gene-disease association, however, the current GMS Rare Disease bioinformatic pipeline does not allow for interpretation of digenic events and therefore this gene cannot be added to the diagnostic panel (no evidence for monogenic association).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.12 SRPK3 Arina Puzriakova Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.11 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from to Slowly progressive myopathy, digenic
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.10 SRPK3 Arina Puzriakova Publications for gene: SRPK3 were set to 38429495
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.9 SRPK3 Arina Puzriakova Mode of inheritance for gene: SRPK3 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.8 SRPK3 Arina Puzriakova Classified gene: SRPK3 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.8 SRPK3 Arina Puzriakova Added comment: Comment on list classification: There is no evidence that monogenic variants in this gene cause myopathy. Digenic inheritance is not currently accommodated in tiering. The TTN gene is already included on this panel as Green meaning cases could still be picked up if a TTN variant is present. As this is digenic, this gene has been made Red and tagged 'digenic'.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.8 SRPK3 Arina Puzriakova Gene: srpk3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7 SRPK3 Arina Puzriakova Tag digenic tag was added to gene: SRPK3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: ; Mode of pathogenicity: None; Publications: 16140986, 38429495, 39667923; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7 TNNI1 Arina Puzriakova Classified gene: TNNI1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7 TNNI1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. 3 families with biallelic LOF variants and 3 families with monoallelic GOF variants, presenting with a hypo- or hypercontractile phenotype, respectively.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.7 TNNI1 Arina Puzriakova Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.6 TNNI1 Arina Puzriakova Mode of inheritance for gene: TNNI1 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 dystrophies, myofibrillar myopathies and distal myopathies v5.5 TNNI1 Arina Puzriakova Phenotypes for gene: TNNI1 were changed from Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease to Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.4 TNNI1 Arina Puzriakova Phenotypes for gene: TNNI1 were changed from to Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.4 TNNI1 Arina Puzriakova Publications for gene: TNNI1 were set to PMID: 38569017
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 TNNI1 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: TNNI1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 TNNI1 Arina Puzriakova changed review comment from: - PMID: 38569017 (2024) - 9 individuals from 3 families with biallelic LOF variants in the TNNI1 gene, manifesting with early-onset myopathy with progressive muscle weakness (proximal more than distal) and rod formation on histology. 2 individuals from different families presented with severe infantile weakness with minimal attainment of motor milestones. 3 individuals from 2 families had mild/moderate contractures.

Also another 2 families with heterozygous GOF variants, resulting in hypercontractile disease with a constellation of symptoms
including muscle cramping, myalgias, stiffness, and rod formation. 4/5 patients reported normal muscle strength and there is no mention of contractures. Recognition of symptoms ranged from childhood to adulthood.

Functional studies in zebrafish demonstrate variant-specific pathomechanisms, manifesting as either a hypo- or a hypercontractile phenotype.


- PMID: 34934811 (2021) - Japanese family with 3 affected individuals with proximal arthrogryposis and elevated CK, albeit without muscle weakness. A presumed GOF heterozygous c.523A>T, p.K175* TNNI1 variant was identified (2 genotyped). Muscle biopsy demonstrated a moth-eaten appearance and mild fibre size variation in type 1 fibres, and electron microscopic analysis revealed type 1 fibre Z disk streaming. No functional studies were done.; to: - PMID: 38569017 (2024) - 9 individuals from 3 families with biallelic LOF variants in the TNNI1 gene, manifesting with early-onset myopathy with progressive muscle weakness (proximal more than distal) and rod formation on histology. 2 individuals from different families presented with severe infantile weakness with minimal attainment of motor milestones. 3 individuals from 2 families had mild/moderate contractures.

Also another 2 families with heterozygous GOF variants, resulting in hypercontractile disease with a constellation of symptoms including muscle cramping, myalgias, stiffness, and rod formation. 4/5 patients reported normal muscle strength and there is no mention of contractures. Recognition of symptoms ranged from childhood to adulthood.

Functional studies in zebrafish demonstrate variant-specific pathomechanisms, manifesting as either a hypo- or a hypercontractile phenotype.


- PMID: 34934811 (2021) - Japanese family with 3 affected individuals with proximal arthrogryposis and elevated CK, albeit without muscle weakness. A presumed GOF heterozygous c.523A>T, p.K175* TNNI1 variant was identified (2 genotyped). Muscle biopsy demonstrated a moth-eaten appearance and mild fibre size variation in type 1 fibres, and electron microscopic analysis revealed type 1 fibre Z disk streaming. No functional studies were done.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 TNNI1 Arina Puzriakova reviewed gene: TNNI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38569017, 34934811; Phenotypes: Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 JAG2 Achchuthan Shanmugasundram Classified gene: JAG2 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 JAG2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Lauren Turton, there is sufficient evidence available (16 unrelated families) for the association of JAG2 with Limb-girdle muscular dystrophy-27 (MIM #619566). Hence, this gene should be promoted to green rating in the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 JAG2 Achchuthan Shanmugasundram Gene: jag2 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.2 JAG2 Achchuthan Shanmugasundram Phenotypes for gene: JAG2 were changed from Limb-girdle muscular dystrophy-27 (OMIM: 619566) to Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 JAG2 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: JAG2.
Tag Q2_25_ NHS_review tag was added to gene: JAG2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 JAG2 Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861953, 39121631, 39649397; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2025-04-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.0 Eleanor Williams promoted panel to version 5.0
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 SNUPN Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next nGMS update.; to: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 SNUPN Achchuthan Shanmugasundram Classified gene: SNUPN as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 SNUPN Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next nGMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 SNUPN Achchuthan Shanmugasundram Gene: snupn has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.44 SNUPN Achchuthan Shanmugasundram Phenotypes for gene: SNUPN were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.43 SNUPN Achchuthan Shanmugasundram Publications for gene: SNUPN were set to 38413582
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 SNUPN Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SNUPN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 SNUPN Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38366623, 38413582; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 ACTN2 Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 ACTN2 Achchuthan Shanmugasundram Tag Q2_25_ MOI tag was added to gene: ACTN2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 ACTN2 Achchuthan Shanmugasundram edited their review of gene: ACTN2: Changed publications to: 30900782, 34170073, 34386585, 34471957, 36116040, 3831179; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 ACTN2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Cassandra Smith, PMID:3831179 reported a different biallelic variant (p.Arg506Gly) in seven patients from five families of Palestinia decent, all presenting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. This variant is suggested to be a possible founder variant, which was confirmed through haplotype analysis in two families.

The MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as there is sufficient evidence available for the association of biallelic variants with the phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 ACTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 JAG2 Lauren Turton changed review comment from: This gene is currently green on the R79 congenital muscular dystrophy panel.
PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families.
PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy.
PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominatly affecting the pelvic girdle and proximal leg muscles.
Sources: NHS GMS; to: This gene is currently green on the R79 congenital muscular dystrophy panel.
PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families.
PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy.
PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominantly affecting the pelvic girdle and proximal leg muscles.
Sources: NHS GMS
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 JAG2 Lauren Turton gene: JAG2 was added
gene: JAG2 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: NHS GMS
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953; 39121631; 39649397
Phenotypes for gene: JAG2 were set to Limb-girdle muscular dystrophy-27 (OMIM: 619566)
Review for gene: JAG2 was set to GREEN
gene: JAG2 was marked as current diagnostic
Added comment: This gene is currently green on the R79 congenital muscular dystrophy panel.
PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families.
PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy.
PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominatly affecting the pelvic girdle and proximal leg muscles.
Sources: NHS GMS
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 ACTN2 Cassandra Smith reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38311799; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 BVES Achchuthan Shanmugasundram commented on gene: BVES: The new-gene-name tag was added as the HGNC approved gene name is POPDC1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 BVES Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 SMCHD1 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SMCHD1.
Tag Q1_24_NHS_review was removed from gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 PYROXD1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PYROXD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 POPDC3 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: POPDC3.
Tag Q1_24_NHS_review was removed from gene: POPDC3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 MYH7 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 HMGCR Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: HMGCR.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CAPN3 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: CAPN3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 BVES Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 ACTN2 Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: ACTN2.
Tag Q2_23_promote_green was removed from gene: ACTN2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 ABHD5 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ABHD5.
Tag Q4_23_NHS_review was removed from gene: ABHD5.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 POGLUT1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

The comment from the GMS reviewers is as follows:
Over the past 3 years, (when we were looking at a slightly larger gene panel (essentially R82 plus 20 genes)) we have screened more than 1000 patients on R82 and for POGLUT1 have not identified any clinically significant variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 POGLUT1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 DPM3 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 DPM3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

The comment from the GMS reviewers is as follows:
Over the past 3 years, (when we were looking at a slightly larger gene panel (essentially R82 plus 20 genes)) we have screened more than 1000 patients on R82 and for DPM3 have not identified any clinically significant variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CASQ1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: CASQ1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CASQ1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

The comment from the GMS reviewers is as follows:
Over the past 3 years, (when we were looking at a slightly larger gene panel (essentially R82 plus 20 genes)) we have screened more than 1000 patients on R82 and for CASQ1 have not identified any clinically significant variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CASQ1 Achchuthan Shanmugasundram edited their review of gene: CASQ1: Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 POGLUT1 Achchuthan Shanmugasundram commented on gene: POGLUT1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 DPM3 Achchuthan Shanmugasundram commented on gene: DPM3
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CASQ1 Achchuthan Shanmugasundram commented on gene: CASQ1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 SMCHD1 Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 PYROXD1 Achchuthan Shanmugasundram commented on gene: PYROXD1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 POPDC3 Achchuthan Shanmugasundram reviewed gene: POPDC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 PNPLA2 Achchuthan Shanmugasundram commented on gene: PNPLA2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 MYH7 Achchuthan Shanmugasundram reviewed gene: MYH7: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 HMGCR Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 CAPN3 Achchuthan Shanmugasundram edited their review of gene: CAPN3: Added comment: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 BVES Achchuthan Shanmugasundram commented on gene: BVES: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 ACTN2 Achchuthan Shanmugasundram commented on gene: ACTN2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 ABHD5 Achchuthan Shanmugasundram edited their review of gene: ABHD5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 SMCHD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 PYROXD1 Achchuthan Shanmugasundram Source NHS GMS was added to PYROXD1.
Source Expert Review Green was added to PYROXD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 POPDC3 Achchuthan Shanmugasundram Source NHS GMS was added to POPDC3.
Source Expert Review Green was added to POPDC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 PNPLA2 Achchuthan Shanmugasundram Source NHS GMS was added to PNPLA2.
Source Expert Review Green was added to PNPLA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 MYH7 Achchuthan Shanmugasundram Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 HMGCR Achchuthan Shanmugasundram Source NHS GMS was added to HMGCR.
Source Expert Review Green was added to HMGCR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 CAPN3 Achchuthan Shanmugasundram Source NHS GMS was added to CAPN3.
Mode of inheritance for gene CAPN3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 BVES Achchuthan Shanmugasundram Source Expert Review Green was added to BVES.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 ACTN2 Achchuthan Shanmugasundram Source NHS GMS was added to ACTN2.
Source Expert Review Green was added to ACTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 ABHD5 Achchuthan Shanmugasundram Source NHS GMS was added to ABHD5.
Source Expert Review Green was added to ABHD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.38 Achchuthan Shanmugasundram Panel version 4.37 has been signed off on 2024-10-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CIAO1.
Tag Q3_24_NHS_review tag was added to gene: CIAO1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh Phenotypes for gene: CIAO1 were changed from myopathy to CIAO1 associated neuromuscular disorder
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 CIAO1 Sarah Leigh Classified gene: CIAO1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 CIAO1 Sarah Leigh Gene: ciao1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 ACTN2 Dmitrijs Rots edited their review of gene: ACTN2: Changed publications to: PMID: 34471957, 30701273, 30900782, 38311799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 TNNI1 Dmitrijs Rots gene: TNNI1 was added
gene: TNNI1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI1 were set to PMID: 38569017
Review for gene: TNNI1 was set to GREEN
Added comment: The study describes: "We identified recessive loss-of-function TNNI1 variants as well as dominant gain-of-function TNNI1 variants as a cause of muscle disease, each with distinct physiological consequences and disease mechanisms. We identified three families with biallelic TNNI1 variants (F1: p.R14H/c.190-9G>A, F2 and F3: homozygous p.R14C), resulting in loss of function, manifesting with early-onset progressive muscle weakness and rod formation on histology. We also identified two families with a dominantly acting heterozygous TNNI1 variant (F4: p.R174Q and F5: p.K176del), resulting in gain of function, manifesting with muscle cramping, myalgias, and rod formation in F5."
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 SNUPN Dmitrijs Rots gene: SNUPN was added
gene: SNUPN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38413582
Phenotypes for gene: SNUPN were set to muscular dystrophy
Review for gene: SNUPN was set to GREEN
Added comment: The study reports:"18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects"
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 SRPK3 Dmitrijs Rots gene: SRPK3 was added
gene: SRPK3 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to Other
Publications for gene: SRPK3 were set to 38429495
Review for gene: SRPK3 was set to GREEN
Added comment: multiple cases with: "that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene."
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 CIAO1 Dmitrijs Rots gene: CIAO1 was added
gene: CIAO1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to myopathy
Review for gene: CIAO1 was set to GREEN
Added comment: Study reported at least 4 families with: "patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms.".
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 Achchuthan Shanmugasundram Panel version 4.34 has been signed off on 2024-08-07
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.34 SMCHD1 Achchuthan Shanmugasundram Mode of inheritance for gene: SMCHD1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 SMCHD1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 HMGCR Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: HMGCR.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 Ivone Leong Panel version 4.32 has been signed off on 2024-05-01
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32 SMCHD1 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: SMCHD1.
Tag Q1_24_MOI tag was added to gene: SMCHD1.
Tag Q1_24_NHS_review tag was added to gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.32 SMCHD1 Sarah Leigh Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901; facioscapulohumeral muscular dystrophy 2, MONDO:0008031
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.31 SMCHD1 Sarah Leigh Publications for gene: SMCHD1 were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh changed review comment from: In line with Ian Berry's (Leeds Genetics Laboratory) review, the mode of inheritance for SMCHD1 should be updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).; to: In line with the recommendations from Ian Berry (Leeds Genetics Laboratory), it is recommended that the mode of inheritance for this gene should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh edited their review of gene: SMCHD1: Added comment: In line with Ian Berry's (Leeds Genetics Laboratory) review, the mode of inheritance for SMCHD1 should be updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least 10 SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic (OMIM:158901)(PMID: 23143600; 24075187;31600781).; Changed publications to: 23143600, 24075187, 31600781
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Sarah Leigh edited their review of gene: SMCHD1: Added comment: In line with the recommendations from Ian Berry (Leeds Genetics Laboratory), it is recommended that the mode of inheritance for this gene should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. At least five SMCHD1 variants in unrelated cases have been associated with Fascioscapulohumeral muscular dystrophy 2, digenic, (OMIM:158901)(PMID: ).; Changed rating: GREEN; Changed publications to: 23143600; Changed phenotypes to: Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901, facioscapulohumeral muscular dystrophy 2, MONDO:0008031; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 SMCHD1 Ian Berry reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 POPDC3 Sarah Leigh Classified gene: POPDC3 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 POPDC3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.30 POPDC3 Sarah Leigh Gene: popdc3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 POPDC3 Sarah Leigh Tag watchlist was removed from gene: POPDC3.
Tag Q1_24_promote_green tag was added to gene: POPDC3.
Tag Q1_24_NHS_review tag was added to gene: POPDC3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 POPDC3 Sarah Leigh reviewed gene: POPDC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.29 POPDC3 Sarah Leigh Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848; muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.28 POPDC3 Sarah Leigh Publications for gene: POPDC3 were set to 31610034
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 ABHD5 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ABHD5.
Tag Q4_23_NHS_review tag was added to gene: ABHD5.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 ABHD5 Achchuthan Shanmugasundram changed review comment from: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). ; to: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465).

This gene should therefore be added with green rating in this panel and also in panel 66 (as myopathy is caused by enzyme deficiency/ metabolic disorder).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 ABHD5 Achchuthan Shanmugasundram Classified gene: ABHD5 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 ABHD5 Achchuthan Shanmugasundram Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.26 ABHD5 Achchuthan Shanmugasundram Phenotypes for gene: ABHD5 were changed from OMIM 604780 (Chanarin-Dorfman syndrome) to Chanarin-Dorfman syndrome, OMIM:275630
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 ABHD5 Achchuthan Shanmugasundram changed review comment from: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle muscular dystrophy/ weakness and the myopathy caused was due to enzyme deficiency/ metabolic disorder.; to: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 ABHD5 Achchuthan Shanmugasundram edited their review of gene: ABHD5: Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 ABHD5 Achchuthan Shanmugasundram changed review comment from: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle dystrophy/ weakness and the myopathy caused was due to metabolic disorder.; to: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle muscular dystrophy/ weakness and the myopathy caused was due to enzyme deficiency/ metabolic disorder.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 ABHD5 Achchuthan Shanmugasundram edited their review of gene: ABHD5: Added comment: As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle dystrophy/ weakness and the myopathy caused was due to metabolic disorder.; Changed publications to: 33455044; Changed phenotypes to: Chanarin-Dorfman syndrome, OMIM:275630
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 ABHD5 Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, OMIM<; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 PNPLA2 Achchuthan Shanmugasundram Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 ABHD5 Oliver Watkinson gene: ABHD5 was added
gene: ABHD5 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 33455044
Phenotypes for gene: ABHD5 were set to OMIM 604780 (Chanarin-Dorfman syndrome)
Penetrance for gene: ABHD5 were set to Complete
Review for gene: ABHD5 was set to GREEN
Added comment: Chanarin-Dorfman is a neutral lipid storage disorder. The review here summarises the world literature to date, with a good paragraph about myopathy towards the end of the discussion. The phenotype is quite variable, and can include multiple organ systems, but overall 59% of patients have high CK and muscle weakness. Skeletal muscle biopsy findings of lipid storage in this disorder are well described. Thus, this gene probably ought to be part of R381, and this seems like the best sub-panel to put it in, given that PNPLA2, a similar disorder, is also on this panel.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 POPDC3 Hannah Knight reviewed gene: POPDC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35075722, 35842834, 37104941; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 26; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 PFKM Achchuthan Shanmugasundram commented on gene: PFKM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Tag Q3_23_promote_green tag was added to gene: HMGCR.
Tag Q3_23_MOI tag was added to gene: HMGCR.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh edited their review of gene: HMGCR: Added comment: HMGCR variants have been associated with Muscular dystrophy, limb-girdle, autosomal recessive 28 (OMIM:620375), but with a phenotype in Gen2Phen. PMIDs 37167966; 36745799 report seven HMGCR variants in four unrelated cases. Segregation of the variants and the condition was seen all of the families and in vitro studies revealed that the variant protein had a reduced activity (PMID: 36745799).; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Classified gene: HMGCR as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.22 HMGCR Sarah Leigh Gene: hmgcr has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.21 HMGCR Sarah Leigh Phenotypes for gene: HMGCR were changed from Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy to Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 HMGCR Julia Baptista gene: HMGCR was added
gene: HMGCR was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Expert Review,Literature
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to 37167966; 36745799
Phenotypes for gene: HMGCR were set to Autosomal recessive limb-girdle muscular dystrophy-28; muscle weakness; myopathy
Review for gene: HMGCR was set to GREEN
Added comment: Several families reported and OMIM entry now available.

Morales-Rosado et al. (2023) reported 9 patients from 5 unrelated families with LGMDR28. Symptoms included hypotonia, delayed motor milestones, and axial and neck muscle weakness. Progressive proximal muscle weakness of the upper and lower limbs, waddling gait, muscle atrophy, and increased serum creatine kinase were also described. Biallelic pathogenic variants identified by exome sequencing including missense, in-frame deletion and splice site.

Yogev et al (2023) reported 6 affected members of a large consanguineous Bedouin kindred with LGMDR28. In vitro functional studies of the missense variant supported a partial loss of function effect.
Sources: Expert Review, Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CASQ1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Classified gene: CASQ1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: In addition to the original founder variant, at least five other variants from this gene were identified to be associated with myopathy. There is sufficient evidence available (>20 unrelated cases and functional studies) for this gene to be promoted to GREEN at the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Gene: casq1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Classified gene: CASQ1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: In addition to the original founder variant, at least five other variants from this gene were identified to be associated with myopathy. There is sufficient evidence available (>20 unrelated cases and functional studies) for this gene to be promoted to GREEN at the next GMS update.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Gene: casq1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.19 CASQ1 Achchuthan Shanmugasundram Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.20 CASQ1 Achchuthan Shanmugasundram Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.19 CASQ1 Achchuthan Shanmugasundram Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.19 CASQ1 Achchuthan Shanmugasundram Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, 616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.18 CASQ1 Achchuthan Shanmugasundram Publications for gene: CASQ1 were set to 26136523; 28895244; 29039140; 30258016; 34908252; 36514469
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.18 CASQ1 Achchuthan Shanmugasundram Publications for gene: CASQ1 were set to 26136523; 28895244; 29039140; 30258016; 34908252; 36514469
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.18 CASQ1 Achchuthan Shanmugasundram Publications for gene: CASQ1 were set to 26136523; 28895244; 29039140; 30258016; 34908252; 36514469
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.17 CASQ1 Achchuthan Shanmugasundram Publications for gene: CASQ1 were set to 26136523; 28895244; 29039140; 30258016; 34908252; 36514469
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.17 CASQ1 Achchuthan Shanmugasundram Publications for gene: CASQ1 were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.16 CASQ1 Achchuthan Shanmugasundram Mode of inheritance for gene: CASQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.15 CASQ1 Achchuthan Shanmugasundram reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26136523, 28895244, 29039140, 30258016, 34908252, 36514469; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.15 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, tubular aggregate, 1, OMIM:160565; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.15 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 32269696; 21544567
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram edited their review of gene: PNPLA2: Changed publications to: 18952067, 21544567, 25956450, 32269696
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PNPLA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.14 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.13 PNPLA2 Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21544567, 32269696; Phenotypes: Neutral lipid storage disease with myopathy, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.13 BVES Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.13 BVES Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major review. All these patients showed limb-girdle muscular weakness/ dystrophy.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.13 BVES Achchuthan Shanmugasundram Publications for gene: BVES were set to 26642364; 31119192; 32528171
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.13 BVES Achchuthan Shanmugasundram Publications for gene: BVES were set to 26642364
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.12 BVES Achchuthan Shanmugasundram Classified gene: BVES as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.12 BVES Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.12 BVES Achchuthan Shanmugasundram Gene: bves has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 BVES Achchuthan Shanmugasundram reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 31119192, 32528171; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25, OMIM:616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 ACTN2 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature.

Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant.

Hence, 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance.; to: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature.

Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant.

'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance. Hence, 'watchlist_moi' tag has been added.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 ACTN2 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: ACTN2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).; to: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).

Both monoallelic and biallelic variants of this gene have been associated with relevant phenotypes in OMIM, but not in Gene2Phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (~15 unrelated cases with monoallelic inheritance) for updating the MOI of this gene from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 CAPN3 Achchuthan Shanmugasundram Mode of inheritance for gene: CAPN3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.10 CAPN3 Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: CAPN3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.10 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.9 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.9 CAPN3 Achchuthan Shanmugasundram Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600; Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.8 CAPN3 Achchuthan Shanmugasundram Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/; 32994280
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 CAPN3 Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).; to: As reviewed by Dmitrijs Rots (RadboudUMC), there are at least 15 unrelated families identified with monoallelic variants (six missense variants and 2 small in-frame deletions) in CAPN3 gene reported with limb girdle muscle dystrophy (LGMD) in literature. These variants are associated with a milder LGMD phenotype than patients identified with recessive variants, and some carriers only present with isolated hyperCKaemia. In general, the autosomal dominant variants have been associated with milder and later-onset phenotypes (disease onset at young adulthood at the earliest).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 CAPN3 Achchuthan Shanmugasundram reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28881388, 32342993, 32557990, 32896923; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600, Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 ACTN2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ACTN2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 ACTN2 Achchuthan Shanmugasundram Classified gene: ACTN2 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 ACTN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 ACTN2 Achchuthan Shanmugasundram Gene: actn2 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.6 ACTN2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature.

Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant.

Hence, 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.6 ACTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: ACTN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.5 ACTN2 Achchuthan Shanmugasundram Phenotypes for gene: ACTN2 were changed from Myopathy, distal, 6, adult onset, OMIM:618655 to Myopathy, distal, 6, adult onset, OMIM:618655
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.5 ACTN2 Achchuthan Shanmugasundram Phenotypes for gene: ACTN2 were changed from Muscular dystrophy; hyperCKemia to Myopathy, distal, 6, adult onset, OMIM:618655
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 ACTN2 Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 ACTN2 Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 ACTN2 Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to PMID: 34471957; 30701273; 30900782
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 ACTN2 Achchuthan Shanmugasundram reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30900782, 34170073, 34386585, 34471957, 36116040; Phenotypes: Myopathy, distal, 6, adult onset, OMIM:618655; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PYROXD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram changed review comment from: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother.

PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting.

PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.; to: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother.

PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting.

PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.

This gene has not yet been associated with LGMD either in OMIM or in Gene2Phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram changed review comment from: PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive limb-girdle-type muscular dystrophy (LGMD) phenotype of symmetric muscle weakness and wasting.

PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.; to: PMID:30345904 reported a Sudanese patient of Arab descent identified with homozygous variant (p.Asn155Ser) in PYROXD1 gene and presented with limb-girdle-type muscular dystrophy (LGMD). The variant was present in heterozygous state in unaffected sister, unaffected son and unaffected daughter and absent in unaffected brother.

PMID:30515627 reported four patients from three Finnish families with biallelic variants (three with homozygous p.Asn155Ser variant and one with compound heterozygous p.Asn155Ser/ p.Tyr354Cys variants). All of them presented with an adult-onset slowly-progressive LGMD phenotype of symmetric muscle weakness and wasting.

PMID:33694278 reported three patients from two consanguineous Turkish families with biallelic variants (homozygous missense variant (p.Asn155Ser) in family 1 with two affected females and compound heterozygous variants (p.Asn155Ser/ p.Leu112Valfs*8) in affected male of family 2). They presented with mild LGMD, facial weakness, normal CK levels, and slow progress. Authors report that their data suggest that c.464A>G is a Turkish founder mutation.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review.

Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants.; to: Comment on list classification: There is sufficient number of cases (6 unrelated cases) to promote this gene to GREEN at the next major review.

Although the same variant (p.Asn155Ser) has been identified in all patients reported with homozygous variants, two patients with compound heterozygous variants harboured p.Asn155Ser together with novel variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram edited their review of gene: PYROXD1: Changed publications to: 30345904, 30515627, 33694278
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 PYROXD1 Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review.

Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient number of cases (5 unrelated cases) to promote this gene to GREEN at the next major review.

Although the same variant has been identified in all patients reported with homozygous variants, the two patients with compound heterozygous variants harboured this variant together with novel variants.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.2 PYROXD1 Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.1 PYROXD1 Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30515627, 33694278; Phenotypes: limb-girdle muscular dystrophy, MONDO:0016971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.0 Arina Puzriakova promoted panel to version 4.0
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.14 Eleanor Williams Panel name changed from Limb girdle muscular dystrophy to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
List of related panels changed from R82 to Limb girdle muscular dystrophy; R82
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.13 SELENON Achchuthan Shanmugasundram changed review comment from: Several patients with SEPN1(SELENON)-related myopathy have been reported with limb girdle weakness/ dystrophy.; to: Sufficient cases with SEPN1(SELENON)-related myopathy have been reported with limb girdle weakness/ dystrophy.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.13 SELENON Achchuthan Shanmugasundram Publications for gene: SELENON were set to 15122708; 11528383
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.12 SELENON Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 15668457, 27863379, 28558865, 29850975, 30642275, 32796131; Phenotypes: Congenital myopathy 3 with rigid spine, OMIM:602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.12 SELENON Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome to Muscular dystrophy, rigid spine, 1, OMIM:602771
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.10 MYOT Achchuthan Shanmugasundram edited their review of gene: MYOT: Changed phenotypes to: Myopathy, myofibrillar, 3, OMIM:609200, Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.10 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy to Myopathy, myofibrillar, 3, OMIM:609200
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 MYOT Achchuthan Shanmugasundram reviewed gene: MYOT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, myofibrillar, 3, OMIM:609200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 POGLUT1 Sarah Leigh commented on gene: POGLUT1: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 21 POGLUT1 variants have been reported in at least 20 unrelated cases (PMID: 27807076; 31897643; 33861953). Supportive in vitro and in vivo functional studies were presented in PMID: 31897643.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 POGLUT1 Sarah Leigh Publications for gene: POGLUT1 were set to 27807076; 29034878
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.8 POGLUT1 Sarah Leigh Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 POGLUT1 Sarah Leigh Classified gene: POGLUT1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 POGLUT1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.7 POGLUT1 Sarah Leigh Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 POGLUT1 Sarah Leigh reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31897643; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232, autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 POGLUT1 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: SYNE2.
Tag Q3_22_NHS_review was removed from gene: SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 MTM1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 SYNE2 Arina Puzriakova commented on gene: SYNE2
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.6 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 SYNE2 Arina Puzriakova Mode of inheritance for gene SYNE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.5 MTM1 Arina Puzriakova Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.4 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; DPM3-congenital disorder of glycosylation, MONDO:0013049; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.3 DPM3 Sarah Leigh Tag Q4_22_promote_green tag was added to gene: DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.3 DPM3 Sarah Leigh edited their review of gene: DPM3: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least four variants have been reported in at least five cases, together with supportive functional studies (PMID: 19576565; 31469168).; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.3 DPM3 Sarah Leigh Classified gene: DPM3 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.3 DPM3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.3 DPM3 Sarah Leigh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.2 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 28803818; 19576565
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.1 POGLUT1 Katherine Schon reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31897643; Phenotypes: limb girdle weakness, thigh weakness, muscle MRI abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.47 MYH7 Arina Puzriakova Added comment: Comment on mode of inheritance: Gene has been re-curated and the MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.

Association with monoallelic variants is well-established. There are now at least four families in literature with recessive variants and myopathy (PMIDs: 14659406; 25666907; 17372140; 31130376). Most commonly described is scapuloperoneal and proximal distribution of muscle weakness, which are within the scope of this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.47 MYH7 Arina Puzriakova Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.46 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018 to Laing distal myopathy, OMIM:160500; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal recessive, OMIM:255160; Scapuloperoneal syndrome, myopathic type, OMIM:181430
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.45 MYH7 Arina Puzriakova Publications for gene: MYH7 were set to 15322983
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 MYH7 Arina Puzriakova Tag Q4_22_MOI tag was added to gene: MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 SYNE2 Sarah Leigh Tag Q3_22_MOI tag was added to gene: SYNE2.
Tag Q3_22_NHS_review tag was added to gene: SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 TTN Arina Puzriakova commented on gene: TTN: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.44 SYNE1 Arina Puzriakova commented on gene: SYNE1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.43 MTM1 Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported in literature (PMID: 10323249; 11552027; 12707446; 15883335) as well as by review of Helen Brittain (Genomics England Clinical Team) providing details of a case identified in clinic - “Participant (female singleton) has a phenotype of distal myopathies with facial hypotonia, limb weakness, progressive weakness and abnormality of muscle morphology among the HPO terms".

MOI should therefore be updated form XLR to XLD at the next GMS review.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.43 MTM1 Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.42 MTM1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.42 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.41 SYNE2 Sarah Leigh Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.40 SYNE2 Sarah Leigh Added comment: Comment on publications: PMID: 19542096 refers only to variants in SYNE1 and so is not relevant to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.40 SYNE2 Sarah Leigh Publications for gene: SYNE2 were set to 17761684; 19542096; 20301609
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.39 SYNE2 Sarah Leigh Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.38 SYNE2 Tracy Lester reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.38 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 TTN Arina Puzriakova commented on gene: TTN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.37 SYNE1 Arina Puzriakova commented on gene: SYNE1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 TTN Arina Puzriakova Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.36 SYNE1 Arina Puzriakova Mode of inheritance for gene SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh Tag for-review was removed from gene: SMN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh Tag for-review was removed from gene: TOR1AIP1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 SMN1 Sarah Leigh commented on gene: SMN1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.35 TOR1AIP1 Sarah Leigh commented on gene: TOR1AIP1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 SMN1 Sarah Leigh Source Expert Review Red was added to SMN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.34 TOR1AIP1 Sarah Leigh Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.33 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649; metabolic myopathy to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 CAPN3 Dmitrijs Rots reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32896923; Phenotypes: limb girdle muscle dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 ACTN2 Dmitrijs Rots gene: ACTN2 was added
gene: ACTN2 was added to Limb girdle muscular dystrophy. Sources: Literature
Mode of inheritance for gene: ACTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACTN2 were set to PMID: 34471957; 30701273; 30900782
Phenotypes for gene: ACTN2 were set to Muscular dystrophy; hyperCKemia
Penetrance for gene: ACTN2 were set to unknown
Review for gene: ACTN2 was set to GREEN
Added comment: Multiple individuals from multiple families reported suggesting ACTN2 as both, monoallelic and biallelic cause of muscular dysctrophy.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763; myofibrillar myopathy to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.31 COL6A3 Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.30 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong commented on gene: CAV3
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Tag Q3_21_MOI was removed from gene: CAV3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 POPDC3 Arina Puzriakova Tag watchlist tag was added to gene: POPDC3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 POPDC3 Arina Puzriakova Mode of inheritance for gene: POPDC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 POPDC3 Arina Puzriakova Classified gene: POPDC3 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 POPDC3 Arina Puzriakova Added comment: Comment on list classification: Since the initial report no further cohorts have been released validating POPDC3 variants in limb girdle muscular dystrophy. Given this and the lack of complete segregation studies, rating as Amber awaiting further evidence.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.28 POPDC3 Arina Puzriakova Gene: popdc3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.27 POPDC3 Arina Puzriakova reviewed gene: POPDC3: Rating: ; Mode of pathogenicity: None; Publications: 31610034; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.27 POPDC3 Arina Puzriakova Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.26 POPDC3 Arina Puzriakova Phenotypes for gene: POPDC3 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 26 to Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.25 GMPPB Sarah Leigh reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.25 GMPPB Sarah Leigh Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.24 GMPPB Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.23 GMPPB Sarah Leigh Publications for gene: GMPPB were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.22 GMPPB Sarah Leigh 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 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.21 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 to Glycogen storage disease IV, OMIM:232500
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20 CAV3 Ivone Leong Tag Q3_21_MOI tag was added to gene: CAV3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20 CAV3 Ivone Leong edited their review of gene: CAV3: Added comment: MOI should be changed to Both monoallelic and biallelic to match the MOI for CAV3 in Rhabdomyolysis and metabolic muscle disorders panel.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20 CAV3 Ivone Leong Added comment: Comment on phenotypes: Previously: Limb-Girdle Muscular Dystrophy, Dominant;Muscular dystrophy, limb-girdle, type IC, 607801;Rippling muscle disease, 606072;Creatine phosphokinase, elevated serum, 123320;Myopathy, distal, Tateyama type, 614321;Cardiomyopathy, familial hypertrophic, 192600; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20 CAV3 Ivone Leong Phenotypes for gene: CAV3 were changed from Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type IC, 607801; Rippling muscle disease, 606072; Creatine phosphokinase, elevated serum, 123320; Myopathy, distal, Tateyama type, 614321; Cardiomyopathy, familial hypertrophic, 192600; Limb-girdle muscular dystrophy to Rippling muscle disease 2, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.19 CAPN3 Ivone Leong Added comment: Comment on phenotypes: Previously:
Muscular dystrophy, limb-girdle, type 2A, 253600;Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.19 CAPN3 Ivone Leong Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A, 253600; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.18 POPDC3 Agnese Zarina gene: POPDC3 was added
gene: POPDC3 was added to Limb girdle muscular dystrophy. Sources: Literature
Mode of inheritance for gene: POPDC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POPDC3 were set to https://doi.org/10.1002/ana.25620
Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26
Review for gene: POPDC3 was set to AMBER
Added comment: Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.18 POMK Sarah Leigh Phenotypes for gene: POMK were changed from ?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; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.17 POMK Sarah Leigh Publications for gene: POMK were set to 24925318; 24556084; 29910097
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.16 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680; Arthrogryposis to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.15 SMN1 Sarah Leigh reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.15 SMN1 Sarah Leigh Tag for-review tag was added to gene: SMN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.15 LRIF1 Eleanor Williams Classified gene: LRIF1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.15 LRIF1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.15 LRIF1 Eleanor Williams Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.14 LRIF1 Eleanor Williams 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
Review for gene: LRIF1 was set to AMBER
Added comment: Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia.
https://panelapp.agha.umccr.org/panels/328/gene/LRIF1/:
A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus.
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.13 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5 609524 to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.12 TOR1AIP1 Arina Puzriakova Classified gene: TOR1AIP1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.12 TOR1AIP1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.12 TOR1AIP1 Arina Puzriakova Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.11 TOR1AIP1 Arina Puzriakova gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Limb girdle muscular dystrophy. Sources: Literature
for-review tags were added to gene: TOR1AIP1.
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 27342937; 30723199; 31299614; 32055997
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900
Review for gene: TOR1AIP1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM, but currently not in Gene2Phenotype.

At least 15 affected individuals from 10 families with biallelic variants in this gene. Of these, 7 individuals (5 families) reported in PMID:30723199 harbour the same founder variant presenting a very similar phenotype, and are therefore considered collectively here.

Muscular dystrophy is the prominent feature of the disease presentation observed in at least one case individual each family, but specifically proximal limb-girdle dystrophy was recorded in 4 unrelated kindreds. Additional common features also include joint contractures (4 fam), dilated cardiomyopathy (4 fam), developmental delay (4 fam), and cataracts (3 fam).

-----
Note that one additional homozygous case has been reported with what is thought to be a discrete phenotype characterised by progressive dystonia, cerebellar atrophy, and dilated cardiomyopathy (PMID: 25425325)
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.10 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal dominant, MONDO:0012018 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.9 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500; cardiomyopathy; distal myopathy to Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426 Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal dominant, MONDO:0012018
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.8 SMN1 Eleanor Williams Publications for gene: SMN1 were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.7 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.7 CAPN3 Arina Puzriakova Added comment: Comment on publications: Added publication to support association with this phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.7 CAPN3 Arina Puzriakova Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 SELENON Zornitza Stark reviewed gene: SELENON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576565, 28803818, 31266720; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 MYOT Zornitza Stark reviewed gene: MYOT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30055862, 21336781, 15947064; Phenotypes: Myopathy, myofibrillar, 3 (MIM#609200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Limb girdle muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 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.

Phenotypic overlap with LGMD.
Sources: Expert list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 PFKM Zornitza Stark reviewed gene: PFKM: Rating: AMBER; Mode of pathogenicity: None; Publications: 24427140, 27066546; Phenotypes: Glycogen storage disease VII (MIM#232800); Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 CASQ1 Zornitza Stark changed review comment from: 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. Very large number of individuals reported with same founder variant, consider promoting to Green.; to: 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. Very large number of individuals reported with same founder variant, consider promoting to Green. Italian rather than rare, isolated population.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26136523, 30258016; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, MIM#616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Limb girdle muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy
Review for gene: PYROXD1 was set to AMBER
Added comment: Reported in >3 families, but phenotype varies from early onset myopathy to a later, more LGMD-like presentation. Recurring variant, Asn155ser, identified in multiple families of different ethnicity. Age of onset variable between families. Mostly normal CK levels PMID: 30345904: 1 family reported with Asn155Ser variant. Normal CK level. Progressive muscle weakness began at the age of 9. PMID: 30515627: 3 Finnish families reported, Asn155Ser, reported on at least one allele. Patients presented with LGMD-type phenotype, onset >20. EMG showed myopathic changes. Normal CK levels. PMID: 27745833: 5 families reported (includes 2 consang Turkish families, hom Asn155Ser). Authors concluded gene as causative for early-onset myopathy, normal to moderately elevated CK levels. EMG was myopathic in all individuals tested
Sources: Expert list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 BVES Zornitza Stark reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 32528171, 31119192; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 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 dystrophies, myofibrillar myopathies and distal myopathies v2.6 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.5 Catherine Snow Panel version has been signed off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.4 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.3 SMN1 Ian Berry reviewed gene: SMN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.3 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.2 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.1 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.0 Louise Daugherty promoted panel to version 2.0
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.186 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 CRYAB Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI to BOTH due to feedback from Judith Hudson and Chiara Marini Bettolo - We also agree that the mode of inheritance for CRYAB is predominantly monoallelic, though there are rare cases where individuals appear to have two copies of the same pathogenic variant.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 CRYAB Louise Daugherty Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives. As this is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Classified gene: POMK as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the overall reviews and comments from reviewers.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Gene: pomk has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.183 POLG Ellen McDonagh Classified gene: POLG as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.183 POLG Ellen McDonagh Added comment: Comment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.183 POLG Ellen McDonagh Gene: polg has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 ACTA1 Ellen McDonagh Classified gene: ACTA1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 ACTA1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 ACTA1 Ellen McDonagh Gene: acta1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.181 AGL Ellen McDonagh Classified gene: AGL as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.181 AGL Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.181 AGL Ellen McDonagh Gene: agl has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.180 ATP2A1 Ellen McDonagh Classified gene: ATP2A1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.180 ATP2A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.180 ATP2A1 Ellen McDonagh Gene: atp2a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.179 BVES Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.; to: Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.179 BVES Ellen McDonagh Classified gene: BVES as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.179 BVES Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.179 BVES Ellen McDonagh Gene: bves has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.178 CHRND Ellen McDonagh Classified gene: CHRND as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.178 CHRND Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.178 CHRND Ellen McDonagh Gene: chrnd has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.177 CLCN1 Ellen McDonagh Classified gene: CLCN1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.177 CLCN1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.177 CLCN1 Ellen McDonagh Gene: clcn1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.176 COL12A1 Ellen McDonagh Classified gene: COL12A1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.176 COL12A1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.176 COL12A1 Ellen McDonagh Gene: col12a1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.175 COLQ Ellen McDonagh Classified gene: COLQ as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.175 COLQ Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.175 COLQ Ellen McDonagh Gene: colq has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.174 DNM2 Ellen McDonagh Classified gene: DNM2 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.174 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.174 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 DUX4 Ellen McDonagh Marked gene: DUX4 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 DUX4 Ellen McDonagh Gene: dux4 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 ETFDH Ellen McDonagh Marked gene: ETFDH as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 ETFDH Ellen McDonagh Classified gene: ETFDH as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 ETFDH Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 ETFDH Ellen McDonagh Gene: etfdh has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Marked gene: GBE1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Classified gene: GBE1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.172 GBE1 Ellen McDonagh Gene: gbe1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.171 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.171 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.171 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.170 GFPT1 Ellen McDonagh Classified gene: GFPT1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.170 GFPT1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.170 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GFPT1 Ellen McDonagh Marked gene: GFPT1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GFPT1 Ellen McDonagh Gene: gfpt1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GYG1 Ellen McDonagh Marked gene: GYG1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GYG1 Ellen McDonagh Classified gene: GYG1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GYG1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.169 GYG1 Ellen McDonagh Gene: gyg1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.168 LIMS2 Ellen McDonagh Marked gene: LIMS2 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.168 LIMS2 Ellen McDonagh Classified gene: LIMS2 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.168 LIMS2 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on overall consensus of reviews and comments.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.168 LIMS2 Ellen McDonagh Gene: lims2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh Marked gene: HNRNPDL as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: Removed 'watchlist tag' as this has been made Green.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh Tag watchlist was removed from gene: HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.167 HNRNPDL Ellen McDonagh Mode of inheritance for gene: HNRNPDL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.166 HNRNPDL Ellen McDonagh Classified gene: HNRNPDL as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.166 HNRNPDL Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to overall majority of Green reviews and clinical comments from GLH representatives. This gene seems to now be deemed a LGMD causative gene.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.166 HNRNPDL Ellen McDonagh Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.165 ACADVL Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.165 ACADVL Ellen McDonagh Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.164 ACADVL Ellen McDonagh Classified gene: ACADVL as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.164 ACADVL Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.164 ACADVL Ellen McDonagh Gene: acadvl has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.163 BAG3 Ellen McDonagh Marked gene: BAG3 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.163 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.163 BAG3 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.163 BAG3 Ellen McDonagh Mode of inheritance for gene: BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.162 BAG3 Ellen McDonagh Classified gene: BAG3 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.162 BAG3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.162 BAG3 Ellen McDonagh Gene: bag3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.161 CASQ1 Ellen McDonagh Classified gene: CASQ1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.161 CASQ1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to expert review, however only one missense variants seems to have been reported in this gene. Awaiting further clinical input for this to be Green.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.161 CASQ1 Ellen McDonagh Gene: casq1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.160 CPT2 Ellen McDonagh Marked gene: CPT2 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.160 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.160 CPT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.160 CPT2 Ellen McDonagh Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.159 CPT2 Ellen McDonagh Classified gene: CPT2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.159 CPT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.159 CPT2 Ellen McDonagh Gene: cpt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.158 CRYAB Ellen McDonagh Classified gene: CRYAB as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.158 CRYAB Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.158 CRYAB Ellen McDonagh Gene: cryab has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.157 DAG1 Ellen McDonagh Marked gene: DAG1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.157 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.157 DAG1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.157 DAG1 Ellen McDonagh Mode of inheritance for gene: DAG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.156 DAG1 Ellen McDonagh Classified gene: DAG1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.156 DAG1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.156 DAG1 Ellen McDonagh Gene: dag1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.155 DES Ellen McDonagh Classified gene: DES as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.155 DES Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.155 DES Ellen McDonagh Gene: des has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 DOK7 Ellen McDonagh Marked gene: DOK7 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 DOK7 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.154 DOK7 Ellen McDonagh Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.153 DOK7 Ellen McDonagh Classified gene: DOK7 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.153 DOK7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.153 DOK7 Ellen McDonagh Gene: dok7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.152 DPM3 Ellen McDonagh Marked gene: DPM3 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.152 DPM3 Ellen McDonagh Classified gene: DPM3 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.152 DPM3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.152 DPM3 Ellen McDonagh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Marked gene: GNE as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.151 GNE Ellen McDonagh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Classified gene: GNE as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives, and more than 3 cases reported.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.150 GNE Ellen McDonagh Gene: gne has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Marked gene: ISPD as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.149 ISPD Ellen McDonagh Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.148 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.147 LAMA2 Ellen McDonagh Marked gene: LAMA2 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.147 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.147 LAMA2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.147 LAMA2 Ellen McDonagh Mode of inheritance for gene: LAMA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.146 LAMA2 Ellen McDonagh Classified gene: LAMA2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.146 LAMA2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.146 LAMA2 Ellen McDonagh Gene: lama2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.145 LAMP2 Ellen McDonagh Marked gene: LAMP2 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.145 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.145 LAMP2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.145 LAMP2 Ellen McDonagh Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.144 LAMP2 Ellen McDonagh Classified gene: LAMP2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.144 LAMP2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.144 LAMP2 Ellen McDonagh Gene: lamp2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.143 LPIN1 Ellen McDonagh Marked gene: LPIN1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.143 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.143 LPIN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.143 LPIN1 Ellen McDonagh Mode of inheritance for gene: LPIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.142 LPIN1 Ellen McDonagh Classified gene: LPIN1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.142 LPIN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.142 LPIN1 Ellen McDonagh Gene: lpin1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.141 MATR3 Ellen McDonagh Marked gene: MATR3 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.141 MATR3 Ellen McDonagh Classified gene: MATR3 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.141 MATR3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.141 MATR3 Ellen McDonagh Gene: matr3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.140 MYH14 Ellen McDonagh Marked gene: MYH14 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.140 MYH14 Ellen McDonagh Classified gene: MYH14 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.140 MYH14 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.140 MYH14 Ellen McDonagh Gene: myh14 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.139 MYH7 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'both' to monoallelic due to the publication provided by the reviewers and mode of inheritance provided in OMIM for this phenotype. To confirm with the reviewers.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.139 MYH7 Ellen McDonagh Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.138 MYH7 Ellen McDonagh Classified gene: MYH7 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.138 MYH7 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.138 MYH7 Ellen McDonagh Gene: myh7 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 NEB Ellen McDonagh Marked gene: NEB as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 NEB Ellen McDonagh Classified gene: NEB as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 NEB Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 NEB Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Marked gene: ORAI1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.136 ORAI1 Ellen McDonagh Mode of inheritance for gene: ORAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.135 ORAI1 Ellen McDonagh Classified gene: ORAI1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.135 ORAI1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.135 ORAI1 Ellen McDonagh Gene: orai1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.134 PFKM Ellen McDonagh Marked gene: PFKM as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.134 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.134 PFKM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.134 PFKM Ellen McDonagh Mode of inheritance for gene: PFKM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.133 PFKM Ellen McDonagh Classified gene: PFKM as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.133 PFKM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.133 PFKM Ellen McDonagh Gene: pfkm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.132 PGK1 Ellen McDonagh Classified gene: PGK1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.132 PGK1 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.132 PGK1 Ellen McDonagh Gene: pgk1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.131 PHKA1 Ellen McDonagh Marked gene: PHKA1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.131 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.131 PHKA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.131 PHKA1 Ellen McDonagh Mode of inheritance for gene: PHKA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.130 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.130 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.129 PHKA1 Ellen McDonagh Classified gene: PHKA1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.129 PHKA1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.129 PHKA1 Ellen McDonagh Gene: phka1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.128 POGLUT1 Ellen McDonagh Publications for gene: POGLUT1 were set to 27807076
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 POGLUT1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).; to: Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.127 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 POGLUT1 Ellen McDonagh Classified gene: POGLUT1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 POGLUT1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.126 POGLUT1 Ellen McDonagh Gene: poglut1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.125 POMGNT2 Ellen McDonagh Marked gene: POMGNT2 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.125 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.125 POMGNT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.125 POMGNT2 Ellen McDonagh Mode of inheritance for gene: POMGNT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.124 POMGNT2 Ellen McDonagh Classified gene: POMGNT2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.124 POMGNT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.124 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.123 PYGM Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.123 PYGM Ellen McDonagh Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 PYGM Ellen McDonagh Classified gene: PYGM as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 PYGM Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 PYGM Ellen McDonagh Gene: pygm has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.121 RAPSN Ellen McDonagh Marked gene: RAPSN as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.121 RAPSN Ellen McDonagh Classified gene: RAPSN as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.121 RAPSN Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.121 RAPSN Ellen McDonagh Gene: rapsn has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.120 RYR1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.120 RYR1 Ellen McDonagh Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Marked gene: RYR1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Classified gene: RYR1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.119 RYR1 Ellen McDonagh Gene: ryr1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 SCN4A Ellen McDonagh Marked gene: SCN4A as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 SCN4A Ellen McDonagh Classified gene: SCN4A as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 SCN4A Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.118 SCN4A Ellen McDonagh Gene: scn4a has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.117 SELENON Ellen McDonagh Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh Classified gene: SELENON as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.116 SELENON Ellen McDonagh Gene: selenon has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh changed review comment from: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.; to: Comment on list classification: Promoted from Red to Amber due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.115 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Classified gene: SMCHD1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.114 SMCHD1 Ellen McDonagh Gene: smchd1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMCHD1 Ellen McDonagh Tag digenic tag was added to gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMN1 Ellen McDonagh Marked gene: SMN1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.113 SMN1 Ellen McDonagh Mode of inheritance for gene: SMN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.112 SMN1 Ellen McDonagh Classified gene: SMN1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.112 SMN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.112 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.111 STIM1 Ellen McDonagh Marked gene: STIM1 as ready
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.111 STIM1 Ellen McDonagh Classified gene: STIM1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.111 STIM1 Ellen McDonagh Gene: stim1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.110 STIM1 Ellen McDonagh Classified gene: STIM1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.110 STIM1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.110 STIM1 Ellen McDonagh Gene: stim1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.109 SYNE2 Ellen McDonagh Classified gene: SYNE2 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.109 SYNE2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.109 SYNE2 Ellen McDonagh Gene: syne2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TPM3 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TPM2 Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TNNT3 Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TNNT3 Ellen McDonagh Classified gene: TNNT3 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TNNT3 Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 TNNT3 Ellen McDonagh Gene: tnnt3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.107 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.107 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 TNPO3 Ellen McDonagh Classified gene: TNPO3 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 TNPO3 Ellen McDonagh Added comment: Comment on list classification: Based on expert review from Chiara Marini Bettolo (NUTH), this gene has been promoted from Red to Green.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 TNPO3 Ellen McDonagh Gene: tnpo3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 TPM2 Ellen McDonagh Classified gene: TPM2 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 TPM2 Ellen McDonagh Added comment: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 TPM2 Ellen McDonagh Gene: tpm2 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.104 TPM3 Ellen McDonagh Classified gene: TPM3 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.104 TPM3 Ellen McDonagh Added comment: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.104 TPM3 Ellen McDonagh Gene: tpm3 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.103 TTN Ellen McDonagh Mode of pathogenicity for gene: TTN was changed from to Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Classified gene: TTN as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall the majority of reviews are Green, and there is a consensus that although classifying variants in this is difficult, additional phenotyping studies can aid in confirmation of diagnosis and that this gene should be included on this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.102 TTN Ellen McDonagh Gene: ttn has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 VMA21 Ellen McDonagh Classified gene: VMA21 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 VMA21 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to consensus from reviewers and submitted gene lists from GLHs.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 VMA21 Ellen McDonagh Gene: vma21 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.100 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.99 DOK7 Louise Daugherty Added comment: Comment on phenotypes: removed Fetal akinesia deformation sequence 1, 208150- the phenotype is related to variants in the gene MUSK not the gene DOK7
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.99 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy to Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.98 POGLUT1 Louise Daugherty Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SMN1 Chiara Marini Bettolo reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CASQ1 Chiara Marini Bettolo reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ORAI1 Chiara Marini Bettolo reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 STIM1 Chiara Marini Bettolo reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TNPO3 Chiara Marini Bettolo reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 POGLUT1 Chiara Marini Bettolo commented on gene: POGLUT1: new gene added after analysis. Currently provided by HSS for LGMDin Ncl via LGMD panel. Known form of LGMD2Z or LGMDR21
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 VMA21 Chiara Marini Bettolo edited their review of gene: VMA21: Added comment: XMEA. Differential diagnosis with LGMD (proximal weakness and raised CK) particularly in milder adult onset forms; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TTN Chiara Marini Bettolo commented on gene: TTN: Disese spectrum can be very variable from congenital myopathy, cardiomyopathy, distal weakness, HMERF to LGMD. Known form of LGMD2J or LGMDR10
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TPM3 Chiara Marini Bettolo edited their review of gene: TPM3: Added comment: CAP myopathy, nemaline myopathy, congenital myopathy with fibre type disproportion; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TPM2 Chiara Marini Bettolo reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 TNNT3 Chiara Marini Bettolo edited their review of gene: TNNT3: Added comment: Arthrogryposis (distal); Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SYNE2 Chiara Marini Bettolo commented on gene: SYNE2: Form of EDMD. Differential diagnosis with AD LGMD. (proximal weakness and raised CK)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: FSHD2, differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SELENON Chiara Marini Bettolo commented on gene: SELENON: Rigid spine syndrome, but not all patients present with rigid spine. Muscle biopsy can range from myoathic to dystrophic. Differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 SCN4A Chiara Marini Bettolo edited their review of gene: SCN4A: Added comment: muscle channelopathy. ; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 RYR1 Chiara Marini Bettolo commented on gene: RYR1: Variable disease spectrum from congenital myopathy, metabolic myopathy, MH. Differential diagnosis with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 RAPSN Chiara Marini Bettolo edited their review of gene: RAPSN: Added comment: CMS gene.; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 PYGM Chiara Marini Bettolo commented on gene: PYGM: McArdle's disease. Differential diagnosis with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 POMK Chiara Marini Bettolo edited their review of gene: POMK: Added comment: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), autosomal recessive disorder with congenital muscular dystrophy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 POMGNT2 Chiara Marini Bettolo commented on gene: POMGNT2: Known form to muscular dystrophy.according to new classification is LGMDR24
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 POLG Chiara Marini Bettolo reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 PHKA1 Chiara Marini Bettolo reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 PGK1 Chiara Marini Bettolo reviewed gene: PGK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 PFKM Chiara Marini Bettolo reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 NEB Chiara Marini Bettolo edited their review of gene: NEB: Added comment: Nemaline myopathy. Variable disease spectrum from severe early onset to milder late onset. Usually CK normal or mildly raised ; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 MYH7 Chiara Marini Bettolo commented on gene: MYH7: Scapuloperoneal syndrome. Variable phenotype fromsevere cardiomyopathy, distal myopathy, proximal and distal myopathy and asymptomatic hyperCKemia.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 MYH14 Chiara Marini Bettolo reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 MATR3 Chiara Marini Bettolo edited their review of gene: MATR3: Added comment: Predominantly distal myopathy with vocal cord parlysis and dysphagia. Raised CK; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 LPIN1 Chiara Marini Bettolo commented on gene: LPIN1: Recurrent episodes of myoglobinuria and high CK. Differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 LIMS2 Chiara Marini Bettolo edited their review of gene: LIMS2: Added comment: Rare form of muscular dystrophy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 LAMP2 Chiara Marini Bettolo commented on gene: LAMP2: Danon disease. Differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 LAMA2 Chiara Marini Bettolo commented on gene: LAMA2: Form of congenital muscular dystrophy, now listed on new LGMD classification as LGMDR23
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ISPD Chiara Marini Bettolo edited their review of gene: ISPD: Added comment: Known as LGMD 2U or LGMDR20 on new nomenclature; Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 HNRNPDL Chiara Marini Bettolo commented on gene: HNRNPDL: Listed as LGMD D3 on new nomenclature/classification.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GYG1 Chiara Marini Bettolo reviewed gene: GYG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GNE Chiara Marini Bettolo commented on gene: GNE: currently provided through LGMD panel at HSS LGMD in Ncl. Proximal and distal weakness, differential diagnosis with LGMD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GFPT1 Chiara Marini Bettolo edited their review of gene: GFPT1: Added comment: CMS gene.; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 GBE1 Chiara Marini Bettolo reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ETFDH Chiara Marini Bettolo reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 DPM3 Chiara Marini Bettolo edited their review of gene: DPM3: Added comment: MDDGC15. Rare form of muscular dystrophy with high CK; Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 DOK7 Chiara Marini Bettolo commented on gene: DOK7: CMS gene, but clinically can present as LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 DNM2 Chiara Marini Bettolo edited their review of gene: DNM2: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 DES Chiara Marini Bettolo commented on gene: DES: currently provided through LGMD panel at HSS LGMD in Ncl. Form of myofibrillar myopathy that can present with variable phenotypes from distal weakness, scapuloperoneal weakness and cardiomyopathy and arrythmia
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 DAG1 Chiara Marini Bettolo commented on gene: DAG1: Known form of LGMD2P or LGMDR16
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CRYAB Chiara Marini Bettolo commented on gene: CRYAB: currently provided through LGMD panel at HSS LGMD in Ncl. Rare form of myofibrillar myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CPT2 Chiara Marini Bettolo commented on gene: CPT2: metabolic myoapthy, can present with high CK - differential diagnosis with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 COLQ Chiara Marini Bettolo edited their review of gene: COLQ: Added comment: CMS; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 COL12A1 Chiara Marini Bettolo edited their review of gene: COL12A1: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CLCN1 Chiara Marini Bettolo edited their review of gene: CLCN1: Added comment: muscle channelopathy. Myotonia congenita; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CHRND Chiara Marini Bettolo edited their review of gene: CHRND: Added comment: form of CMS; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 BVES Chiara Marini Bettolo edited their review of gene: BVES: Added comment: only reported in one family; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 BAG3 Chiara Marini Bettolo commented on gene: BAG3: currently provided through LGMD panel at HSS LGMD in Ncl. Rare and severe form of myopathy with proximal and distal weakness.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ATP2A1 Chiara Marini Bettolo edited their review of gene: ATP2A1: Added comment: Brody myopathy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 AGL Chiara Marini Bettolo edited their review of gene: AGL: Added comment: metabolic myopathy. Glycongen storage disease IIIa/b; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ACTA1 Chiara Marini Bettolo edited their review of gene: ACTA1: Added comment: congenital myopathy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: metabolic myopathy but differential diagnosis with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 SMN1 Louise Daugherty Source NHS GMS was added to SMN1.
Source Yorkshire and North East GLH was added to SMN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 CASQ1 Louise Daugherty Source NHS GMS was added to CASQ1.
Source Yorkshire and North East GLH was added to CASQ1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Source Yorkshire and North East GLH was added to ORAI1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Source Yorkshire and North East GLH was added to STIM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 TNPO3 Louise Daugherty Source NHS GMS was added to TNPO3.
Source Yorkshire and North East GLH was added to TNPO3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.95 SMN1 Louise Daugherty gene: SMN1 was added
gene: SMN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-4, 271150
Review for gene: SMN1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.94 CASQ1 Louise Daugherty gene: CASQ1 was added
gene: CASQ1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates, 616231
Review for gene: CASQ1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.93 ORAI1 Louise Daugherty 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
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, 615883
Review for gene: ORAI1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.92 STIM1 Louise Daugherty 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
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1, 160565
Review for gene: STIM1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.91 TNPO3 Louise Daugherty gene: TNPO3 was added
gene: TNPO3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
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
Review for gene: TNPO3 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.90 Louise Daugherty List of related panels changed from to R82
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 ISPD Chiara Marini Bettolo commented on gene: ISPD: this gene is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 DES Chiara Marini Bettolo commented on gene: DES: this gene is currently provided as part of our diagnostic service and is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 HNRNPDL Chiara Marini Bettolo commented on gene: HNRNPDL: this gene is now listed on the old and new classification for LGMD (LGMD D3)

https://doi.org/10.1016/j.nmd.2018.05.007
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 POLG Louise Daugherty Classified gene: POLG as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 POLG Louise Daugherty Added comment: Comment on list classification: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.87 POLG Louise Daugherty Gene: polg has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TPM3 Louise Daugherty Source NHS GMS was added to TPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TPM2 Louise Daugherty Source NHS GMS was added to TPM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TNNT3 Louise Daugherty Source NHS GMS was added to TNNT3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 RAPSN Louise Daugherty Source NHS GMS was added to RAPSN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PYGM Louise Daugherty Source NHS GMS was added to PYGM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 POLG Louise Daugherty Source NHS GMS was added to POLG.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 POGLUT1 Louise Daugherty Source NHS GMS was added to POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PHKA1 Louise Daugherty Source NHS GMS was added to PHKA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PGK1 Louise Daugherty Source NHS GMS was added to PGK1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PFKM Louise Daugherty Source NHS GMS was added to PFKM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 NEB Louise Daugherty Source NHS GMS was added to NEB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MYH14 Louise Daugherty Source NHS GMS was added to MYH14.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MATR3 Louise Daugherty Source NHS GMS was added to MATR3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LPIN1 Louise Daugherty Source NHS GMS was added to LPIN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LAMA2 Louise Daugherty Source NHS GMS was added to LAMA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GYG1 Louise Daugherty Source NHS GMS was added to GYG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GFPT1 Louise Daugherty Source NHS GMS was added to GFPT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GBE1 Louise Daugherty Source NHS GMS was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ETFDH Louise Daugherty Source NHS GMS was added to ETFDH.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CRYAB Louise Daugherty Source NHS GMS was added to CRYAB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CPT2 Louise Daugherty Source NHS GMS was added to CPT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 COLQ Louise Daugherty Source NHS GMS was added to COLQ.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CLCN1 Louise Daugherty Source NHS GMS was added to CLCN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CHRND Louise Daugherty Source NHS GMS was added to CHRND.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 BAG3 Louise Daugherty Source NHS GMS was added to BAG3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ATP2A1 Louise Daugherty Source NHS GMS was added to ATP2A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ANO5 Louise Daugherty Source NHS GMS was added to ANO5.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 AGL Louise Daugherty Source NHS GMS was added to AGL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ACADVL Louise Daugherty Source NHS GMS was added to ACADVL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 VMA21 Louise Daugherty Source Yorkshire and North East GLH was added to VMA21.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TTN Louise Daugherty Source Yorkshire and North East GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TPM3 Louise Daugherty Source Yorkshire and North East GLH was added to TPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TPM2 Louise Daugherty Source Yorkshire and North East GLH was added to TPM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TNNT3 Louise Daugherty Source Yorkshire and North East GLH was added to TNNT3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SYNE2 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SMCHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SELENON Louise Daugherty Source Yorkshire and North East GLH was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SCN4A Louise Daugherty Source Yorkshire and North East GLH was added to SCN4A.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 RYR1 Louise Daugherty Source Yorkshire and North East GLH was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 RAPSN Louise Daugherty Source Yorkshire and North East GLH was added to RAPSN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PYGM Louise Daugherty Source Yorkshire and North East GLH was added to PYGM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POMK Louise Daugherty Source Yorkshire and North East GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POMGNT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POGLUT1 Louise Daugherty Source Yorkshire and North East GLH was added to POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PHKA1 Louise Daugherty Source Yorkshire and North East GLH was added to PHKA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PGK1 Louise Daugherty Source Yorkshire and North East GLH was added to PGK1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PFKM Louise Daugherty Source Yorkshire and North East GLH was added to PFKM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 NEB Louise Daugherty Source Yorkshire and North East GLH was added to NEB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MYH7 Louise Daugherty Source Yorkshire and North East GLH was added to MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MYH14 Louise Daugherty Source Yorkshire and North East GLH was added to MYH14.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MTM1 Louise Daugherty Source Yorkshire and North East GLH was added to MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LPIN1 Louise Daugherty Source Yorkshire and North East GLH was added to LPIN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LIMS2 Louise Daugherty Source Yorkshire and North East GLH was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LAMP2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMP2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LAMA2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ISPD Louise Daugherty Source Yorkshire and North East GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 HNRNPDL Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GYG1 Louise Daugherty Source Yorkshire and North East GLH was added to GYG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GFPT1 Louise Daugherty Source Yorkshire and North East GLH was added to GFPT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GBE1 Louise Daugherty Source Yorkshire and North East GLH was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ETFDH Louise Daugherty Source Yorkshire and North East GLH was added to ETFDH.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DPM3 Louise Daugherty Source Yorkshire and North East GLH was added to DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DOK7 Louise Daugherty Source Yorkshire and North East GLH was added to DOK7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DNM2 Louise Daugherty Source Yorkshire and North East GLH was added to DNM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DES Louise Daugherty Source Yorkshire and North East GLH was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DAG1 Louise Daugherty Source Yorkshire and North East GLH was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CRYAB Louise Daugherty Source Yorkshire and North East GLH was added to CRYAB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CPT2 Louise Daugherty Source Yorkshire and North East GLH was added to CPT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 COLQ Louise Daugherty Source Yorkshire and North East GLH was added to COLQ.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 COL12A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL12A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CLCN1 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CHRND Louise Daugherty Source Yorkshire and North East GLH was added to CHRND.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 BVES Louise Daugherty Source Yorkshire and North East GLH was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 BAG3 Louise Daugherty Source Yorkshire and North East GLH was added to BAG3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ATP2A1 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ANO5 Louise Daugherty Source Yorkshire and North East GLH was added to ANO5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 AGL Louise Daugherty Source Yorkshire and North East GLH was added to AGL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ACTA1 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ACADVL Louise Daugherty Source Yorkshire and North East GLH was added to ACADVL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.84 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, 160500; cardiomyopathy; distal myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.83 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy; HMERF; arthrogryposis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.82 LAMA2 Louise Daugherty 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, 607855; congenital muscular dystroph
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.81 MATR3 Louise Daugherty Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.80 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.79 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.78 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM to Nonaka myopathy, 605820; Distal myopathy; Limb girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.77 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.76 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.75 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.74 BVES Louise Daugherty Phenotypes for gene: BVES were changed from Muscular dystrophy, limb-girdle, type 2X 616812 to Muscular dystrophy, limb-girdle, type 2X, 616812; limb girdle muscular dystrophy; cardiac arrhythmia
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.73 CHRND Louise Daugherty Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.72 RYR1 Louise Daugherty Phenotypes for gene: RYR1 were changed from Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 to Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000; congenital myopathy; malignant hyperthermia
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 POGLUT1 Louise Daugherty Classified gene: POGLUT1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 POGLUT1 Louise Daugherty Gene: poglut1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.70 SELENON Louise Daugherty Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.69 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.68 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy 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; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.67 SYNE2 Louise Daugherty Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.66 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.65 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.64 RAPSN Louise Daugherty Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.63 RAPSN Louise Daugherty Publications for gene: RAPSN were set to 18179903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.62 DNM2 Louise Daugherty Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.61 COLQ Louise Daugherty Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.60 SCN4A Louise Daugherty Phenotypes for gene: SCN4A were changed from Hyperkalemic periodic paralysis, type 2, 170500 to Hyperkalemic periodic paralysis, type 2, 170500; Hyperkalemic periodic paralysis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.59 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 to Myoglobinuria, acute recurrent, autosomal recessive, 268200; myoglobinuria; exercise induced myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.58 LPIN1 Louise Daugherty Publications for gene: LPIN1 were set to 18817903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.57 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 to Myopathy, X-linked, with excessive autophagy, 310440; X-Linked myopathy with excessive autophagy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.56 DPM3 Louise Daugherty Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.55 COL12A1 Louise Daugherty Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.54 SMCHD1 Louise Daugherty Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.53 CPT2 Louise Daugherty Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649 to CPT II deficiency, infantile, 600649; metabolic myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.52 GFPT1 Louise Daugherty Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 to Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.51 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.50 TPM3 Louise Daugherty Phenotypes for gene: TPM3 were changed from CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284; Nemaline myopathy; congenital myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.49 ACADVL Louise Daugherty Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.48 ACADVL Louise Daugherty Publications for gene: ACADVL were set to 7668252; 27246109
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.47 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo commented on gene: DOK7: overlap phenotype with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: overlap phenotype with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TPM3 Chiara Marini Bettolo reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy, congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TNNT3 Chiara Marini Bettolo reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 PYGM Chiara Marini Bettolo reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 8316268, 12666117; Phenotypes: McArdle disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GFPT1 Chiara Marini Bettolo reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CPT2 Chiara Marini Bettolo reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1528846, 8651281; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: overlap LGMD phenotype
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LIMS2 Chiara Marini Bettolo reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LAMP2 Chiara Marini Bettolo reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10972294; Phenotypes: Danon disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 COL12A1 Chiara Marini Bettolo reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Bethlem myopathy, Ullrich congenital muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DPM3 Chiara Marini Bettolo reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576565, 28803818; Phenotypes: limb-girdle muscular dystrophy, dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: 1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy, 2) milder childhood onset form with hypoketotic hypoglycaemia, hypotonia with or without hepatic disease and 3) adult-onset form presenting with exercise intolerance, muscle cramps and rhabdomyolisis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo edited their review of gene: ACADVL: Changed publications: 7668252, 27246109, 25929793; Changed phenotypes: metabolic myopathy, rhabdomyolsis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 VMA21 Chiara Marini Bettolo edited their review of gene: VMA21: Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 VMA21 Chiara Marini Bettolo reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315026, 19379691; Phenotypes: X-Linked myopathy with excessive autophagy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LPIN1 Chiara Marini Bettolo reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22481384, 18817903; Phenotypes: myoglobinuria, exercise induced myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SCN4A Chiara Marini Bettolo reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 COLQ Chiara Marini Bettolo reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DNM2 Chiara Marini Bettolo reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17932957; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RAPSN Chiara Marini Bettolo reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792100; Phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DAG1 Chiara Marini Bettolo reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14678799, 21388311, 30055862; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Chiara Marini Bettolo reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761684, 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Chiara Marini Bettolo reviewed gene: ISPD: Rating: ; Mode of pathogenicity: None; Publications: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Chiara Marini Bettolo reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24925318; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMGNT2 Chiara Marini Bettolo reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066570; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 NEB Chiara Marini Bettolo reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359044, 12207937; Phenotypes: congenital myopathy, nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SELENON Chiara Marini Bettolo reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383, 15122708; Phenotypes: congenital myopathy, muscular dystophy, rigid spine syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POGLUT1 Chiara Marini Bettolo gene: POGLUT1 was added
gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POGLUT1 were set to 27807076
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Review for gene: POGLUT1 was set to GREEN
Added comment: Sources: Expert list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo edited their review of gene: RYR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CLCN1 Chiara Marini Bettolo reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CHRND Chiara Marini Bettolo reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11782989; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BVES Chiara Marini Bettolo reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ATP2A1 Chiara Marini Bettolo reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841193; Phenotypes: Brody myopathy, 9367679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 AGL Chiara Marini Bettolo reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, Glycogen storage disease IIIc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACTA1 Chiara Marini Bettolo reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938801; Phenotypes: congenital myopathy, scapuloperoneal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ANO5 Chiara Marini Bettolo reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Limb-girdle muscular dystrophy 2L; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7668252, 27246109; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220422, 8220423; Phenotypes: congenital myopathy, Central core disease, malignant hyperthermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 MYH7 Chiara Marini Bettolo reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322983; Phenotypes: Laing distal myopathy, cardiomyopathy, distal myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Chiara Marini Bettolo reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Limb-girdle muscular dystrophy, distal myopathy, HMERF, dilated cardiomyopathy, arthrogryposis, myofibrillar myopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LAMA2 Chiara Marini Bettolo reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550355, 12552556; Phenotypes: congenital muscular dystrophy, merosin deficient or partially deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 MATR3 Chiara Marini Bettolo reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878; Phenotypes: ALS, myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DES Chiara Marini Bettolo reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 11073539, 19433360, 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 HNRNPDL Chiara Marini Bettolo reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055862, 24647604, 15367920; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CRYAB Chiara Marini Bettolo reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11577372; Phenotypes: myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BAG3 Chiara Marini Bettolo reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Chiara Marini Bettolo reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883483; Phenotypes: Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo edited their review of gene: DOK7: Changed phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Louise Daugherty reviewed gene: SYNE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LIMS2 Louise Daugherty reviewed gene: LIMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 HNRNPDL Louise Daugherty reviewed gene: HNRNPDL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DUX4 Louise Daugherty reviewed gene: DUX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BVES Louise Daugherty reviewed gene: BVES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.45 HNRNPDL Louise Daugherty Phenotypes for gene: HNRNPDL were changed from Muscular dystrophy, limb-girdle, type 1G 609115 to Muscular dystrophy, limb-girdle, type 1G 609115; Limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.44 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.43 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.42 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.41 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.40 DES Louise Daugherty Mode of pathogenicity for gene: DES was changed from to Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.39 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.38 DES Louise Daugherty Phenotypes for gene: DES were changed from Muscular dystrophy, limb-girdle, type 2R 615325 to Muscular dystrophy, limb-girdle, type 2R, 615325; myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.37 DES Louise Daugherty Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.36 DES Louise Daugherty Publications for gene: DES were set to 23687351
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.35 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.34 GNE Louise Daugherty Publications for gene: GNE were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.33 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.32 ISPD Louise Daugherty Publications for gene: ISPD were set to 23390185
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.31 LIMS2 Louise Daugherty Phenotypes for gene: LIMS2 were changed from Muscular dystrophy, limb-girdle, type 2W 616827 to Muscular dystrophy, limb-girdle, type 2W, 616827; limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.30 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.29 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.28 POMK Louise Daugherty Publications for gene: POMK were set to 24925318; 24556084
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.27 SYNE2 Louise Daugherty Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.26 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.25 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.24 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J 608807 to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.23 TTN Louise Daugherty Publications for gene: TTN were set to 26392295; 12145747
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: 12145747; Phenotypes: Muscular dystrophy, limb-girdle, type 2J, 608807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SYNE2 Natalie Forrester reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SMCHD1 Natalie Forrester reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Mode of inheritance: Other - please specifiy in evaluation comments
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMK Natalie Forrester reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: 24925318, 29910097; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMGNT2 Natalie Forrester reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 LIMS2 Natalie Forrester reviewed gene: LIMS2: Rating: RED; Mode of pathogenicity: ; Publications: 25589244; Phenotypes: Muscular dystrophy, limb-girdle, type 2W, 616827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 ISPD Natalie Forrester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 23390185, 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 HNRNPDL Natalie Forrester reviewed gene: HNRNPDL: Rating: RED; Mode of pathogenicity: ; Publications: 24647604; Phenotypes: Muscular dystrophy, limb-girdle, type 1G, 609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 GNE Natalie Forrester reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: 22883483; Phenotypes: Nonaka myopathy, 605820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DUX4 Natalie Forrester reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Facioscapulohumeral muscular dystrophy, 158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: 23687351; Phenotypes: Muscular dystrophy, limb-girdle, type 2R, 615325; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DAG1 Natalie Forrester reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25503980, 29036200, 21388311; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 BVES Natalie Forrester reviewed gene: BVES: Rating: RED; Mode of pathogenicity: ; Publications: 26642364; Phenotypes: Muscular dystrophy, limb-girdle, type 2X, 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.21 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 TTN Louise Daugherty Source NHS GMS was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SYNE2 Louise Daugherty Source NHS GMS was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SMCHD1 Louise Daugherty Source NHS GMS was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMK Louise Daugherty Source NHS GMS was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 LIMS2 Louise Daugherty Source NHS GMS was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 HNRNPDL Louise Daugherty Source NHS GMS was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 GNE Louise Daugherty Source NHS GMS was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DUX4 Louise Daugherty Source NHS GMS was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DES Louise Daugherty Source NHS GMS was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 BVES Louise Daugherty Source NHS GMS was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 TTN Louise Daugherty Source South West GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SYNE2 Louise Daugherty Source South West GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SMCHD1 Louise Daugherty Source South West GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMK Louise Daugherty Source South West GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMGNT2 Louise Daugherty Source South West GLH was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 LIMS2 Louise Daugherty Source South West GLH was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 ISPD Louise Daugherty Source South West GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 HNRNPDL Louise Daugherty Source South West GLH was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 GNE Louise Daugherty Source South West GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DUX4 Louise Daugherty Source South West GLH was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DES Louise Daugherty Source South West GLH was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DAG1 Louise Daugherty Source South West GLH was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 BVES Louise Daugherty Source South West GLH was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 VMA21 Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
Publications for gene VMA21 were changed from to 23315026; 19379691
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TPM3 Louise Daugherty Mode of inheritance for gene TPM3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 for gene: TPM3
Publications for gene TPM3 were changed from to 7704029; 10619715
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TPM2 Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 for gene: TPM2
Publications for gene TPM2 were changed from to 7977374; 12592607
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 TNNT3 Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3
Publications for gene TNNT3 were changed from to 12865991; 12592607
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 SELENON Louise Daugherty Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Publications for gene SELENON were changed from to 15122708; 11528383
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500 for gene: SCN4A
Publications for gene SCN4A were changed from to 1651050; 1659948
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 RYR1 Louise Daugherty Mode of inheritance for gene RYR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 8220422; 8220423
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 RAPSN Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: RAPSN
Publications for gene RAPSN were changed from to 18179903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PYGM Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes McArdle disease, 232600 for gene: PYGM
Publications for gene PYGM were changed from to 8316268; 12666117
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 POLG Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG
Publications for gene POLG were changed from to 15122711
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PHKA1 Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
Publications for gene PHKA1 were changed from to 2252364; 7874115
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Publications for gene PGK1 were changed from to 6933565
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 PFKM Louise Daugherty Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
Publications for gene PFKM were changed from to 7603526
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 NEB Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
Publications for gene NEB were changed from to 9359044; 12207937
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MYH7 Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Laing distal myopathy, 160500 for gene: MYH7
Publications for gene MYH7 were changed from to 15322983
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MYH14 Louise Daugherty Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14
Publications for gene MYH14 were changed from to 21480433
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Publications for gene MATR3 were changed from to 19344878
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LPIN1 Louise Daugherty Mode of inheritance for gene LPIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1
Publications for gene LPIN1 were changed from to 18817903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Danon disease, 300257 for gene: LAMP2
Publications for gene LAMP2 were changed from to 10972294
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 LAMA2 Louise Daugherty Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2
Publications for gene LAMA2 were changed from to 12552556; 7550355
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GYG1 Louise Daugherty Mode of inheritance for gene GYG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease XV, 613507 for gene: GYG1
Publications for gene GYG1 were changed from to 20357282
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GFPT1 Louise Daugherty Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1
Publications for gene GFPT1 were changed from to 21310273
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 GBE1 Louise Daugherty Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1
Publications for gene GBE1 were changed from to 8613547
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ETFDH Louise Daugherty Mode of inheritance for gene ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glutaric acidemia IIC, 231680; Glutaric acidemia IIA, 231680; Glutaric acidemia IIB, 231680 for gene: ETFDH
Publications for gene ETFDH were changed from to 17412732
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DPM3 Louise Daugherty Mode of inheritance for gene DPM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 for gene: DPM3
Publications for gene DPM3 were changed from to 28803818; 19576565
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DOK7 Louise Daugherty Mode of inheritance for gene DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: DOK7
Publications for gene DOK7 were changed from to 19261599
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 DNM2 Louise Daugherty Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2
Publications for gene DNM2 were changed from to 17932957
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CRYAB Louise Daugherty Mode of inheritance for gene CRYAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cataract 16, multiple types, 613763 for gene: CRYAB
Publications for gene CRYAB were changed from to 11577372
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CPT2 Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes CPT II deficiency, infantile, 600649 for gene: CPT2
Publications for gene CPT2 were changed from to 1528846; 8651281
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 COLQ Louise Daugherty Mode of inheritance for gene COLQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 5, 603034 for gene: COLQ
Publications for gene COLQ were changed from to 9689136
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 COL12A1 Louise Daugherty Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1
Publications for gene COL12A1 were changed from to 24334604
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CLCN1 Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1
Publications for gene CLCN1 were changed from to 8112288; 7981750
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CHRND Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 for gene: CHRND
Publications for gene CHRND were changed from to 11782989
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 BAG3 Louise Daugherty Mode of inheritance for gene BAG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Publications for gene BAG3 were changed from to 19085932; 20605452
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ATP2A1 Louise Daugherty Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brody myopathy, 601003 for gene: ATP2A1
Publications for gene ATP2A1 were changed from to 8841193; 9367679
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 AGL Louise Daugherty Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400 for gene: AGL
Publications for gene AGL were changed from to 8755644; 8990006
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ACTA1 Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1
Publications for gene ACTA1 were changed from to 25938801
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 ACADVL Louise Daugherty Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes VLCAD deficiency, 201475 for gene: ACADVL
Publications for gene ACADVL were changed from to 7668252; 27246109
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Louise Daugherty commented on gene: SELENON
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 VMA21 Ana Topf reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026, 19379691; Phenotypes: Myopathy, X-linked, with excessive autophagy, 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TPM3 Ana Topf reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy 1, autosomal dominant or recessive, 609284, CAP myopathy 1, 609284; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TPM2 Ana Topf reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 7977374; Phenotypes: Arthrogryposis multiplex congenita, distal, type 1, 108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 TNNT3 Ana Topf reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis, distal, type 2B, 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SELENON Ana Topf reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383, 15122708; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 SCN4A Ana Topf reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis, type 2, 170500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 RYR1 Ana Topf reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8220422, 8220423; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, 117000, Central core disease, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 RAPSN Ana Topf reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179903; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PYGM Ana Topf reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8316268, 12666117; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 POLG Ana Topf reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122711; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PHKA1 Ana Topf reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7874115, 2252364; Phenotypes: Muscle glycogenosis, 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PGK1 Ana Topf reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 6933565; Phenotypes: Phosphoglycerate kinase 1 deficiency, 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 PFKM Ana Topf reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7603526; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 NEB Ana Topf reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9359044, 12207937; Phenotypes: Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MYH7 Ana Topf reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 15322983; Phenotypes: Laing distal myopathy, 160500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MYH14 Ana Topf reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: ; Publications: 21480433; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MTM1 Ana Topf edited their review of gene: MTM1: Changed publications: 9305655, 9285787; Changed phenotypes: Myotubular myopathy, X-linked, 310400; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MATR3 Ana Topf reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19344878; Phenotypes: Amyotrophic lateral sclerosis 21, 606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LPIN1 Ana Topf reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18817903; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LAMP2 Ana Topf reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10972294; Phenotypes: Danon disease, 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 LAMA2 Ana Topf reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550355, 12552556; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GYG1 Ana Topf reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20357282; Phenotypes: Glycogen storage disease XV, 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GFPT1 Ana Topf reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21310273; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 GBE1 Ana Topf reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8613547; Phenotypes: Glycogen storage disease IV, 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ETFDH Ana Topf reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732; Phenotypes: Glutaric acidemia IIC, 231680, Glutaric acidemia IIA, 231680, Glutaric acidemia IIB, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DPM3 Ana Topf reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 28803818; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DOK7 Ana Topf reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19261599; Phenotypes: Fetal akinesia deformation sequence 1, 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 DNM2 Ana Topf reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17932957; Phenotypes: Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CRYAB Ana Topf reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 11577372; Phenotypes: Cataract 16, multiple types, 613763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CPT2 Ana Topf reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 1528846, 8651281; Phenotypes: CPT II deficiency, infantile, 600649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 COLQ Ana Topf reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 9689136; Phenotypes: Myasthenic syndrome, congenital, 5, 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 COL12A1 Ana Topf reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2, 616470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CLCN1 Ana Topf reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita, dominant, 160800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CHRND Ana Topf reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: ; Publications: 11782989; Phenotypes: Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 BAG3 Ana Topf reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ATP2A1 Ana Topf reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8841193, 9367679; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 AGL Ana Topf reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIc, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ACTA1 Ana Topf reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938801; Phenotypes: Myopathy, scapulohumeroperoneal, 616852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 ACADVL Ana Topf reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 7668252, 27246109; Phenotypes: VLCAD deficiency, 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 VMA21 Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TPM3 Louise Daugherty gene: TPM3 was added
gene: TPM3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TPM2 Louise Daugherty gene: TPM2 was added
gene: TPM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TPM2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 TNNT3 Louise Daugherty gene: TNNT3 was added
gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: TNNT3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 SELENON Louise Daugherty gene: SELENON was added
gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SELENON was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 SCN4A Louise Daugherty gene: SCN4A was added
gene: SCN4A was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SCN4A was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 RYR1 Louise Daugherty gene: RYR1 was added
gene: RYR1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RYR1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 RAPSN Louise Daugherty gene: RAPSN was added
gene: RAPSN was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: RAPSN was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PYGM Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 POLG Louise Daugherty gene: POLG was added
gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: POLG was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PHKA1 Louise Daugherty gene: PHKA1 was added
gene: PHKA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PHKA1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PGK1 Louise Daugherty gene: PGK1 was added
gene: PGK1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: PGK1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 PFKM Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 NEB Louise Daugherty gene: NEB was added
gene: NEB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: NEB was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MYH7 Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MYH14 Louise Daugherty gene: MYH14 was added
gene: MYH14 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MYH14 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MTM1 Louise Daugherty Source Expert Review was added to MTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 MATR3 Louise Daugherty gene: MATR3 was added
gene: MATR3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: MATR3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LPIN1 Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LAMP2 Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 LAMA2 Louise Daugherty gene: LAMA2 was added
gene: LAMA2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: LAMA2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GYG1 Louise Daugherty gene: GYG1 was added
gene: GYG1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GYG1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GFPT1 Louise Daugherty gene: GFPT1 was added
gene: GFPT1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GFPT1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: GBE1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ETFDH Louise Daugherty gene: ETFDH was added
gene: ETFDH was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ETFDH was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DPM3 Louise Daugherty 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
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DOK7 Louise Daugherty gene: DOK7 was added
gene: DOK7 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DOK7 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 DNM2 Louise Daugherty gene: DNM2 was added
gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: DNM2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CRYAB Louise Daugherty gene: CRYAB was added
gene: CRYAB was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CRYAB was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CPT2 Louise Daugherty gene: CPT2 was added
gene: CPT2 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CPT2 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 COLQ Louise Daugherty gene: COLQ was added
gene: COLQ was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COLQ was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 COL12A1 Louise Daugherty gene: COL12A1 was added
gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: COL12A1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CLCN1 Louise Daugherty gene: CLCN1 was added
gene: CLCN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CLCN1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 CHRND Louise Daugherty gene: CHRND was added
gene: CHRND was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: CHRND was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 BAG3 Louise Daugherty gene: BAG3 was added
gene: BAG3 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: BAG3 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ATP2A1 Louise Daugherty gene: ATP2A1 was added
gene: ATP2A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ATP2A1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 AGL Louise Daugherty gene: AGL was added
gene: AGL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: AGL was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ACTA1 Louise Daugherty gene: ACTA1 was added
gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACTA1 was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 ACADVL Louise Daugherty gene: ACADVL was added
gene: ACADVL was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: ACADVL was set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SMCHD1 Elizabeth Harris reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMK Elizabeth Harris reviewed gene: POMK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 24925318; Phenotypes: limb girdle musuclar dystorphy, congenital muscular dystrophy; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMGNT2 Elizabeth Harris reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27066570; Phenotypes: limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 LIMS2 Elizabeth Harris reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 ISPD Elizabeth Harris reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris commented on gene: BVES: initially given and LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris commented on gene: HNRNPDL: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Currently only recurrent HMERF associated mutations are reported by this lab but truncating variants are also of great clinical interest. Difficulty classifying variants in titin should not be a reason not to include this gene as additional phenotyping studies such as muscle MRI, biopsy review and protein analysis is often extremely helpful in confirming or refuting the diagnosis.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris commented on gene: DAG1: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris reviewed gene: DAG1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 14678799, PMID: 21388311; Phenotypes: Limb girdle muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Phenotypic overlap warrants inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: phenotypic overlap with LGMDs warrants inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Loss of function variants are simpler to classify but missense variants are also reported as pathogenic. The analysis of titin variants is more complex than this proforma allows for
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11073539, PMID: 19433360, PMID: 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24647604, PMID: 15367920; Phenotypes: Limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 GNE Elizabeth Harris reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22883483, PMID: 24695763; Phenotypes: Distal myopathy, Limg girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17761684, PMID: 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25772186, PMID: 26392295, PMID: 26581302, PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed publications: PMID: 28716623, PMID: 26381502, PMID: 25772186; Changed phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy, distal myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Classified gene: MTM1 as Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 MTM1 Louise Daugherty Gene: mtm1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 MTM1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 MTM1 Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 MTM1 Ana Topf gene: MTM1 was added
gene: MTM1 was added to Limb girdle muscular dystrophy. Sources: Literature,Expert list
Mode of inheritance for gene: MTM1 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: MTM1 were set to 8640223; 9285787; 9305655; 10790201; 10502779
Phenotypes for gene: MTM1 were set to 310400
Penetrance for gene: MTM1 were set to Incomplete
Review for gene: MTM1 was set to GREEN
gene: MTM1 was marked as current diagnostic
Added comment: Sources: Literature, Expert list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty commented on gene: ISPD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.12 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh Tag watchlist tag was added to gene: HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: When the gene is knocked down in zebrafish it causes a myopathic phenotype (same study). No new cases have been reported in the literature since this publication in 2014.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies HNRNPDL Ellen McDonagh classified HNRNPDL as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies HNRNPDL Ellen McDonagh Added gene to panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies DMD Ellen McDonagh commented on DMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies TRAPPC11 Rebecca Foulger classified TRAPPC11 as green
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies TRAPPC11 Rebecca Foulger commented on TRAPPC11
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies DUX4 Arianna Tucci added DUX4 to panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies DUX4 Arianna Tucci reviewed DUX4