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Congenital muscular dystrophy v4.23 FHL1 Sarah Leigh changed review comment from: In response to Zornitza Starks' review, are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?; to: In response to Zornitza Starks' review, Helen Brittain (Genomics England Clinical Fellow) was asked the following question: are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?
Helen Brittain replied that in PMID: 19181672, the patients present with weakness and a raised CK - this would make clinicians think of a muscular dystrophy primarily. Although technically it may be a myopathy, I think it is enough of a mimic to be included on both the dystrophy and myopathy panels. Therefore this gene should remain green on Congenital muscular dystrophy
Congenital muscular dystrophy v4.23 FHL1 Sarah Leigh reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital muscular dystrophy v4.23 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Congenital muscular dystrophy v4.23 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.22 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779; 37431817
Congenital muscular dystrophy v4.21 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378; 29339779
Congenital muscular dystrophy v4.20 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Congenital muscular dystrophy v4.20 MSTO1 Sarah Leigh edited their review of gene: MSTO1: Added comment: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.
There are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.20 DAG1 Achchuthan Shanmugasundram Publications for gene: DAG1 were set to 26380289; 24052401; 25934851; 22810924
Congenital muscular dystrophy v4.19 EMD Achchuthan Shanmugasundram Tag Q2_21_expert_review was removed from gene: EMD.
Tag Q2_23_expert_review tag was added to gene: EMD.
Congenital muscular dystrophy v4.19 COL4A1 Eleanor Williams Tag Q3_23_NHS_review tag was added to gene: COL4A1.
Congenital muscular dystrophy v4.19 POGLUT1 Eleanor Williams Tag Q4_22_NHS_review tag was added to gene: POGLUT1.
Congenital muscular dystrophy v4.19 EMD Eleanor Williams commented on gene: EMD
Congenital muscular dystrophy v4.19 EMD Eleanor Williams Tag Q2_21_expert_review tag was added to gene: EMD.
Congenital muscular dystrophy v4.19 GOLGA2 Achchuthan Shanmugasundram Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities to Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240
Congenital muscular dystrophy v4.18 GOLGA2 Achchuthan Shanmugasundram edited their review of gene: GOLGA2: Changed phenotypes to: Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240
Congenital muscular dystrophy v4.18 GOLGA2 Achchuthan Shanmugasundram Classified gene: GOLGA2 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.18 GOLGA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases and zebrafish model in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS review.
Congenital muscular dystrophy v4.18 GOLGA2 Achchuthan Shanmugasundram Gene: golga2 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.17 GOLGA2 Achchuthan Shanmugasundram Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy to Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities
Congenital muscular dystrophy v4.16 GOLGA2 Achchuthan Shanmugasundram Publications for gene: GOLGA2 were set to 26742501; 30237576
Congenital muscular dystrophy v4.15 GOLGA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: GOLGA2.
Tag Q4_23_NHS_review tag was added to gene: GOLGA2.
Congenital muscular dystrophy v4.15 GOLGA2 Achchuthan Shanmugasundram reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.15 GOLGA2 Hannah Knight reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34424553; Phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.13 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from Walker Warburg Syndrome to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Congenital muscular dystrophy v4.12 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620; 18160688; 20818663
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: COL4A1.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh edited their review of gene: COL4A1: Added comment: Based on the review published by Rannikmäe et al (PMID: 32842921), numerous COL4A1 variants have been associated with muscle phenotypes (supplementary table IIIA).; Changed rating: GREEN; Changed publications to: 32842921
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Classified gene: COL4A1 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v4.11 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.10 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to 28056338; 22037604; 21625620
Congenital muscular dystrophy v4.9 COL4A1 Gavin Ryan reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18160688, 20818663; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Deleted their comment
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review.; to: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset muscular dystrophy for this gene to be promoted to GREEN in this panel in the next major review.
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: PYROXD1.
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PYROXD1.
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review.
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Classified gene: PYROXD1 as Amber List (moderate evidence)
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset dystrophy for this gene to be promoted to GREEN in this panel in the next major review.
Congenital muscular dystrophy v4.9 PYROXD1 Achchuthan Shanmugasundram Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.8 PYROXD1 Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 33694278; 30515627
Congenital muscular dystrophy v4.8 PYROXD1 Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to 33694278; 30515627
Congenital muscular dystrophy v4.8 PYROXD1 Achchuthan Shanmugasundram Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627
Congenital muscular dystrophy v4.7 PYROXD1 Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33694278; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram changed review comment from: EDMD1 is a rare X-linked recessive disease characterised by early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death.

PMID:21697856 reported18 patients and three carriers identified with variants in EMD gene. The patients presented with EDMD and the Age at diagnosis was reported for all, but age of onset was only reported for only a few. The youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal to 5 years of age.

PMID:31645980 reported a male patient that began having difficulty moving his limb gridle and cervical vertebrae at the age of 5 years. The condition worsened when he was 13 years, and normal exercise was limited, with serious elbow contracture and mild scapular winging contracture.

PMID:31802929 reported one family with 10 affected males with serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death (SCD) along with mild skeletal muscular atrophy, joint contracture and elevated CK levels. and mild skeletal muscular dystrophy.

PMID:34026875 reported three unrelated patients with EDMD, who had cardiac manifestation in childhood without any skeletal muscle phenotypes.

This gene has been associated with phenotypes in OMIM (MIM #310300), which also describes the disorder as primarily of childhood onset. It has not yet been reported in Gene2Phenotype.; to: EDMD1 is a rare X-linked recessive disease characterised by early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death.

PMID:21697856 reported18 patients and three carriers identified with variants in EMD gene. The patients presented with EDMD and the age at diagnosis was reported for all, but age of onset was only reported for only a few. The youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal to 5 years of age.

PMID:31645980 reported a male patient that began having difficulty moving his limb gridle and cervical vertebrae at the age of 5 years. The condition worsened when he was 13 years, and normal exercise was limited, with serious elbow contracture and mild scapular winging contracture.

PMID:31802929 reported one family with 10 affected males with serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death (SCD) along with mild skeletal muscular atrophy, joint contracture and elevated CK levels. and mild skeletal muscular dystrophy.

PMID:34026875 reported three unrelated patients with EDMD, who had cardiac manifestation in childhood without any skeletal muscle phenotypes.

This gene has been associated with phenotypes in OMIM (MIM #310300), which also describes the disorder as primarily of childhood onset. It has not yet been reported in Gene2Phenotype.
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: EMD.
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy, patients with Emery-Dreifuss muscular dystrophy 1(EDMD1) present symptoms (skeletal muscle and/ or cardiac manifestations) in childhood./ There is sufficient evidence (>3 cases) for this gene to be promoted to green in the next major review.; to: Comment on list classification: As reviewed by Anna Sarkozy, patients with Emery-Dreifuss muscular dystrophy 1(EDMD1) present symptoms (skeletal muscle and/ or cardiac manifestations) in childhood. There is sufficient evidence (>3 cases) for this gene to be promoted to green in the next major review.
Congenital muscular dystrophy v4.7 DTNA Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: DTNA.
Congenital muscular dystrophy v4.7 BET1 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: BET1.
Congenital muscular dystrophy v4.7 GOSR2 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: GOSR2.
Congenital muscular dystrophy v4.7 DAG1 Achchuthan Shanmugasundram changed review comment from: "watchlist_moi" tag added to review this gene for MOI change when more monoallelic cases are reported in the literature.; to: "watchlist_moi" tag added to review this gene for MOI change with new evidence.
Congenital muscular dystrophy v4.7 DAG1 Achchuthan Shanmugasundram commented on gene: DAG1: "watchlist_moi" tag added to review this gene for MOI change when more monoallelic cases are reported in the literature.
Congenital muscular dystrophy v4.7 DAG1 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: DAG1.
Congenital muscular dystrophy v4.7 DAG1 Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: ; Mode of pathogenicity: None; Publications: 35082294; Phenotypes: ; Mode of inheritance: None
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: EMD.
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram changed review comment from: As reviewed by Anna Sarkozy, patients with Emery-Dreifuss muscular dystrophy 1(EDMD1) present symptoms (skeletal muscle and/ or cardiac manifestations) in childhood.

EDMD1 is a rare X-linked recessive disease characterised by early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death.

PMID:21697856 reported18 patients and three carriers identified with variants in EMD gene. The patients presented with EDMD and the Age at diagnosis was reported for all, but age of onset was only reported for only a few. The youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal to 5 years of age.

PMID:31645980 reported a male patient that began having difficulty moving his limb gridle and cervical vertebrae at the age of 5 years. The condition worsened when he was 13 years, and normal exercise was limited, with serious elbow contracture and mild scapular winging contracture.

PMID:31802929 reported one family with 10 affected males with serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death (SCD) along with mild skeletal muscular atrophy, joint contracture and elevated CK levels. and mild skeletal muscular dystrophy.

PMID:34026875 reported three unrelated patients with EDMD, who had cardiac manifestation in childhood without any skeletal muscle phenotypes.

This gene has been associated with phenotypes in OMIM (MIM #310300), which also describes the disorder as primarily of childhood onset. It has not yet been reported in Gene2Phenotype.; to: EDMD1 is a rare X-linked recessive disease characterised by early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death.

PMID:21697856 reported18 patients and three carriers identified with variants in EMD gene. The patients presented with EDMD and the Age at diagnosis was reported for all, but age of onset was only reported for only a few. The youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal to 5 years of age.

PMID:31645980 reported a male patient that began having difficulty moving his limb gridle and cervical vertebrae at the age of 5 years. The condition worsened when he was 13 years, and normal exercise was limited, with serious elbow contracture and mild scapular winging contracture.

PMID:31802929 reported one family with 10 affected males with serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death (SCD) along with mild skeletal muscular atrophy, joint contracture and elevated CK levels. and mild skeletal muscular dystrophy.

PMID:34026875 reported three unrelated patients with EDMD, who had cardiac manifestation in childhood without any skeletal muscle phenotypes.

This gene has been associated with phenotypes in OMIM (MIM #310300), which also describes the disorder as primarily of childhood onset. It has not yet been reported in Gene2Phenotype.
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram Classified gene: EMD as Amber List (moderate evidence)
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy, patients with Emery-Dreifuss muscular dystrophy 1(EDMD1) present symptoms (skeletal muscle and/ or cardiac manifestations) in childhood./ There is sufficient evidence (>3 cases) for this gene to be promoted to green in the next major review.
Congenital muscular dystrophy v4.7 EMD Achchuthan Shanmugasundram Gene: emd has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.6 EMD Achchuthan Shanmugasundram edited their review of gene: EMD: Changed publications to: 21697856, 31645980, 31802929, 34026875
Congenital muscular dystrophy v4.6 EMD Achchuthan Shanmugasundram Publications for gene: EMD were set to 21697856; 31645980; 31802929; 34026875
Congenital muscular dystrophy v4.6 EMD Achchuthan Shanmugasundram Publications for gene: EMD were set to
Congenital muscular dystrophy v4.5 EMD Achchuthan Shanmugasundram reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856, 31645980, 31802929, :34026875; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: DTNA.
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.

This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in G2P.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.

This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in Gene2Phenotype.
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.

This gene has not yet been associated with muscular dystrophy phenotype either in OMIM or in G2P.
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram Classified gene: DTNA as Amber List (moderate evidence)
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
Congenital muscular dystrophy v4.5 DTNA Achchuthan Shanmugasundram Gene: dtna has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v4.4 DTNA Achchuthan Shanmugasundram reviewed gene: DTNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36799992; Phenotypes: muscular dystrophy, MONDO:0020121; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.4 DTNA Achchuthan Shanmugasundram Phenotypes for gene: DTNA were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121
Congenital muscular dystrophy v4.3 DTNA Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992
Congenital muscular dystrophy v4.3 DTNA Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992
Congenital muscular dystrophy v4.2 DTNA Achchuthan Shanmugasundram Publications for gene: DTNA were set to 36799992
Congenital muscular dystrophy v4.2 DTNA Achchuthan Shanmugasundram Publications for gene: DTNA were set to PMID: 36799992
Congenital muscular dystrophy v4.1 GOSR2 Achchuthan Shanmugasundram edited their review of gene: GOSR2: Changed phenotypes to: Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Congenital muscular dystrophy v4.1 GOSR2 Anna Sarkozy reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33639315, 33639315; Phenotypes: congenital muscular dystrophy with secondary alpha-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.1 EMD Anna Sarkozy reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Emery Dreifuss muscular dystrophy, X linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital muscular dystrophy v4.1 BET1 Anna Sarkozy reviewed gene: BET1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34779586; Phenotypes: congenital muscular dystrophy with epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.1 PYROXD1 Anna Sarkozy gene: PYROXD1 was added
gene: PYROXD1 was added to Congenital muscular dystrophy. Sources: Literature
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627
Phenotypes for gene: PYROXD1 were set to muscular dystrophy
Penetrance for gene: PYROXD1 were set to unknown
Mode of pathogenicity for gene: PYROXD1 was set to Other
Review for gene: PYROXD1 was set to GREEN
Added comment: this gene is already included as green gene in the CM panel. there is body of evidence that the clinical spectrum of this gene is wider and also includes dystrophic presentations with raised CK. thus this gene should also be included in the CMD R79 panel
Sources: Literature
Congenital muscular dystrophy v4.1 DAG1 Anna Sarkozy reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35082294; Phenotypes: muscular dystrophy, secondary alpha-dystroglycanopathy, hyper-CKemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.1 DTNA Anna Sarkozy gene: DTNA was added
gene: DTNA was added to Congenital muscular dystrophy. Sources: Literature
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to PMID: 36799992
Phenotypes for gene: DTNA were set to muscular dystrophy
Penetrance for gene: DTNA were set to unknown
Mode of pathogenicity for gene: DTNA was set to Other
Review for gene: DTNA was set to GREEN
Added comment: Nascimento et al described four unrelated families (12 individuals in total) with monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin. the phenotype is characterised by myalgia, exercise intolerance with variable ages of onset, proximal lower limb weakness from first decade, raised CK levels and one report of rhabdomyolysis. Autism spectrum disorder and learning disabilities were also reported. Muscle biopsies showed mixed myopathic and dystrophic findings, with reduced α-dystrobrevin immunoreactivity and variably reduced immunoreactivity of other DGC proteins.
Sources: Literature
Congenital muscular dystrophy v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Congenital muscular dystrophy v4.0 Arina Puzriakova promoted panel to version 4.0
Congenital muscular dystrophy v3.97 POGLUT1 Sarah Leigh Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Congenital muscular dystrophy v3.96 POGLUT1 Sarah Leigh Publications for gene: POGLUT1 were set to 27807076; 31897643
Congenital muscular dystrophy v3.95 SYNE2 Arina Puzriakova Source was removed from SYNE2.
Congenital muscular dystrophy v3.94 DAG1 Arina Puzriakova Source was removed from DAG1.
Congenital muscular dystrophy v3.93 TRAPPC11 Arina Puzriakova Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Congenital muscular dystrophy v3.92 TMEM5 Arina Puzriakova Source was removed from TMEM5.
Congenital muscular dystrophy v3.91 TMEM43 Arina Puzriakova Source was removed from TMEM43.
Congenital muscular dystrophy v3.91 TMEM5 Arina Puzriakova Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Congenital muscular dystrophy v3.90 TMEM43 Arina Puzriakova Phenotypes for gene: TMEM43 were changed from Emery-Dreifuss muscular dystrophy 7, AD 614302 to Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302
Congenital muscular dystrophy v3.89 TCAP Arina Puzriakova Source was removed from TCAP.
Congenital muscular dystrophy v3.88 TCAP Arina Puzriakova Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies to Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
Congenital muscular dystrophy v3.87 SYNE2 Arina Puzriakova Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999
Congenital muscular dystrophy v3.86 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998; Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Congenital muscular dystrophy v3.85 SMCHD1 Arina Puzriakova Source was removed from SMCHD1.
Mode of inheritance for gene SMCHD1 was changed from to Other
Congenital muscular dystrophy v3.84 SMCHD1 Arina Puzriakova Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901
Congenital muscular dystrophy v3.83 SIL1 Arina Puzriakova Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 to Marinesco-Sjogren syndrome, OMIM:248800
Congenital muscular dystrophy v3.82 POMT2 Arina Puzriakova Source was removed from POMT2.
Congenital muscular dystrophy v3.81 POMT2 Arina Puzriakova Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156
Congenital muscular dystrophy v3.80 POMT1 Arina Puzriakova Source was removed from POMT1.
Congenital muscular dystrophy v3.79 POMT1 Arina Puzriakova Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308
Congenital muscular dystrophy v3.78 POMK Arina Puzriakova Source was removed from POMK.
Congenital muscular dystrophy v3.77 POMK Arina Puzriakova Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Congenital muscular dystrophy v3.76 POMGNT2 Arina Puzriakova Source was removed from POMGNT2.
Congenital muscular dystrophy v3.75 POMGNT2 Arina Puzriakova Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830
Congenital muscular dystrophy v3.74 POMGNT1 Arina Puzriakova Source was removed from POMGNT1.
Congenital muscular dystrophy v3.73 POMGNT1 Arina Puzriakova Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151
Congenital muscular dystrophy v3.72 POGLUT1 Arina Puzriakova Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232
Congenital muscular dystrophy v3.71 PLEC Arina Puzriakova Source was removed from PLEC.
Congenital muscular dystrophy v3.70 PABPN1 Arina Puzriakova Source was removed from PABPN1.
Congenital muscular dystrophy v3.69 PABPN1 Arina Puzriakova Phenotypes for gene: PABPN1 were changed from Oculopharyngeal muscular dystrophy, 164300; Oculopharyngeal muscular dystrophy to Oculopharyngeal muscular dystrophy, OMIM:164300
Congenital muscular dystrophy v3.68 MSTO1 Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 to Myopathy, mitochondrial, and ataxia, OMIM:617675
Congenital muscular dystrophy v3.67 LARGE1 Arina Puzriakova Source was removed from LARGE1.
Congenital muscular dystrophy v3.66 LARGE1 Arina Puzriakova Phenotypes for gene: LARGE1 were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840
Congenital muscular dystrophy v3.65 LAMA2 Arina Puzriakova Source was removed from LAMA2.
Congenital muscular dystrophy v3.64 LAMA2 Arina Puzriakova Phenotypes for gene: LAMA2 were changed from Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
Congenital muscular dystrophy v3.63 JAG2 Arina Puzriakova Phenotypes for gene: JAG2 were changed from muscular dystrophy, MONDO:0020121 to Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
Congenital muscular dystrophy v3.62 ITGA7 Arina Puzriakova Source was removed from ITGA7.
Congenital muscular dystrophy v3.61 ITGA7 Arina Puzriakova Phenotypes for gene: ITGA7 were changed from Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 to Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204
Congenital muscular dystrophy v3.60 ISPD Arina Puzriakova Source was removed from ISPD.
Congenital muscular dystrophy v3.59 ISPD Arina Puzriakova Publications for gene: ISPD were set to 22522420, 22522421
Congenital muscular dystrophy v3.58 ISPD Arina Puzriakova Phenotypes for gene: ISPD were changed from Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Congenital muscular dystrophy v3.57 INPP5K Arina Puzriakova Phenotypes for gene: INPP5K were changed from Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Congenital muscular dystrophy v3.56 HNRNPA2B1 Arina Puzriakova Phenotypes for gene: HNRNPA2B1 were changed from early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Congenital muscular dystrophy v3.55 HNRNPA2B1 Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1.
Congenital muscular dystrophy v3.55 GOSR2 Arina Puzriakova Phenotypes for gene: GOSR2 were changed from Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan to Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Congenital muscular dystrophy v3.54 GMPPB Arina Puzriakova Source was removed from GMPPB.
Congenital muscular dystrophy v3.53 GMPPB Arina Puzriakova Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352
Congenital muscular dystrophy v3.52 FKTN Arina Puzriakova Source was removed from FKTN.
Congenital muscular dystrophy v3.51 FKTN Arina Puzriakova Phenotypes for gene: FKTN were changed from Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
Congenital muscular dystrophy v3.50 FKRP Arina Puzriakova Source was removed from FKRP.
Congenital muscular dystrophy v3.49 FKRP Arina Puzriakova Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153; Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612
Congenital muscular dystrophy v3.48 FHL1 Arina Puzriakova Phenotypes for gene: FHL1 were changed from Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717
Congenital muscular dystrophy v3.47 EMD Arina Puzriakova Source was removed from EMD.
Congenital muscular dystrophy v3.46 EMD Arina Puzriakova Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300
Congenital muscular dystrophy v3.45 DYSF Arina Puzriakova Source was removed from DYSF.
Congenital muscular dystrophy v3.44 DYSF Arina Puzriakova Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601; Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130 to Miyoshi muscular dystrophy 1, OMIM:254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601; Myopathy, distal, with anterior tibial onset, OMIM:606768
Congenital muscular dystrophy v3.43 DUX4 Arina Puzriakova Source was removed from DUX4.
Congenital muscular dystrophy v3.42 DUX4 Arina Puzriakova Mode of inheritance for gene: DUX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v3.41 DPM3 Arina Puzriakova Source was removed from DPM3.
Congenital muscular dystrophy v3.40 DPM3 Arina Puzriakova Phenotypes for gene: DPM3 were changed from 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 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Congenital muscular dystrophy v3.39 DPM2 Arina Puzriakova Source was removed from DPM2.
Congenital muscular dystrophy v3.38 DPM1 Arina Puzriakova Source was removed from DPM1.
Congenital muscular dystrophy v3.37 DOLK Arina Puzriakova Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, OMIM:610768
Congenital muscular dystrophy v3.36 DMD Arina Puzriakova Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, OMIM:310200
Congenital muscular dystrophy v3.35 DAG1 Arina Puzriakova Phenotypes for gene: DAG1 were changed from congenital muscular dystrophies; congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Congenital muscular dystrophy v3.34 COL6A1 Arina Puzriakova Source was removed from COL6A1.
Congenital muscular dystrophy v3.33 COL4A2 Arina Puzriakova Mode of inheritance for gene: COL4A2 was changed from to Unknown
Congenital muscular dystrophy v3.32 COL4A1 Arina Puzriakova Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780 to Walker Warburg Syndrome
Congenital muscular dystrophy v3.31 CHKB Arina Puzriakova Source was removed from CHKB.
Congenital muscular dystrophy v3.30 CHKB Arina Puzriakova Publications for gene: CHKB were set to 16371353, 21665002
Congenital muscular dystrophy v3.29 CHKB Arina Puzriakova Phenotypes for gene: CHKB were changed from Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541 to Muscular dystrophy, congenital, megaconial type, OMIM:602541
Congenital muscular dystrophy v3.28 B4GAT1 Arina Puzriakova Source was removed from B4GAT1.
Congenital muscular dystrophy v3.27 B4GAT1 Arina Puzriakova Phenotypes for gene: B4GAT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Congenital muscular dystrophy v3.26 B3GALNT2 Arina Puzriakova Source was removed from B3GALNT2.
Congenital muscular dystrophy v3.25 B3GALNT2 Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Congenital muscular dystrophy v3.24 ANO5 Arina Puzriakova Source was removed from ANO5.
Congenital muscular dystrophy v3.23 ANO5 Arina Puzriakova Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-Girdle Muscular Dystrophy, Recessive to Miyoshi muscular dystrophy 3, OMIM:613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
Congenital muscular dystrophy v3.22 MYMK Eleanor Williams Tag Q3_21_rating was removed from gene: MYMK.
Tag Q3_21_expert_review was removed from gene: MYMK.
Tag Q3_21_phenotype was removed from gene: MYMK.
Congenital muscular dystrophy v3.22 JAG2 Eleanor Williams Tag Q2_21_rating was removed from gene: JAG2.
Congenital muscular dystrophy v3.22 HNRNPA2B1 Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1.
Tag Q1_22_rating was removed from gene: HNRNPA2B1.
Tag Q4_22_promote_green was removed from gene: HNRNPA2B1.
Congenital muscular dystrophy v3.22 GGPS1 Eleanor Williams Tag Q4_21_rating was removed from gene: GGPS1.
Congenital muscular dystrophy v3.22 CAVIN1 Eleanor Williams Tag Q3_21_rating was removed from gene: CAVIN1.
Congenital muscular dystrophy v3.22 MYMK Eleanor Williams edited their review of gene: MYMK: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. MYMK will remain green on the Congenital Myopathy panel.; Changed rating: RED
Congenital muscular dystrophy v3.22 JAG2 Eleanor Williams commented on gene: JAG2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Congenital muscular dystrophy v3.22 HNRNPA2B1 Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.22 GGPS1 Eleanor Williams reviewed gene: GGPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.22 CAVIN1 Eleanor Williams reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v3.21 MYMK Eleanor Williams Source Expert Review Red was added to MYMK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v3.21 JAG2 Eleanor Williams Source Expert Review Green was added to JAG2.
Source NHS GMS was added to JAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 HNRNPA2B1 Eleanor Williams Source Expert Review Green was added to HNRNPA2B1.
Source NHS GMS was added to HNRNPA2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 GGPS1 Eleanor Williams Source Expert Review Green was added to GGPS1.
Source NHS GMS was added to GGPS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.21 CAVIN1 Eleanor Williams Source Expert Review Green was added to CAVIN1.
Source NHS GMS was added to CAVIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Deleted their comment
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Classified gene: DPM3 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.20 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.
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: DPM3.
Tag Q1_23_NHS_review tag was added to gene: DPM3.
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh edited their review of gene: DPM3: Added comment: A green rating has been recommended based on the review from Anna Sarkozy (Great Ormond Street Hospital)(10 Nov 2022) and consultation with Helen Brittain (Clinical Fellow, Genomics England).; Changed rating: GREEN
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Classified gene: DPM3 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.19 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.
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.18 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 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
Congenital muscular dystrophy v3.17 POGLUT1 Sarah Leigh Tag watchlist was removed from gene: POGLUT1.
Tag Q4_22_promote_green tag was added to gene: POGLUT1.
Congenital muscular dystrophy v3.17 POGLUT1 Sarah Leigh edited their review of gene: POGLUT1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 31897643 reports seven POGLUT1 variants in six families with Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232. Supportive in vitro and in vivo functional studies were presented in PMID: 31897643.; Changed rating: GREEN
Congenital muscular dystrophy v3.17 POGLUT1 Sarah Leigh Publications for gene: POGLUT1 were set to 27807076; 33861953
Congenital muscular dystrophy v3.16 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
Congenital muscular dystrophy v3.15 POGLUT1 Sarah Leigh Classified gene: POGLUT1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.15 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.
Congenital muscular dystrophy v3.15 POGLUT1 Sarah Leigh Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.14 POGLUT1 Sarah Leigh Publications for gene: POGLUT1 were set to 27807076
Congenital muscular dystrophy v3.13 GGPS1 Sarah Leigh Publications for gene: GGPS1 were set to 32403198
Congenital muscular dystrophy v3.12 HNRNPA2B1 Sarah Leigh Tag Q4_22_promote_green tag was added to gene: HNRNPA2B1.
Congenital muscular dystrophy v3.12 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 19576565
Congenital muscular dystrophy v3.11 HNRNPA2B1 Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.11 HNRNPA2B1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v3.11 HNRNPA2B1 Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.10 HNRNPA2B1 Sarah Leigh Added comment: Comment on phenotypes: The OMIM phenotype for HNRNPA2B1 (?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422) is based on one family. PMID: 35484142 presents further variants associated with an expanded phenotype.
Congenital muscular dystrophy v3.10 HNRNPA2B1 Sarah Leigh Phenotypes for gene: HNRNPA2B1 were changed from ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, MONDO:0014178 to early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy
Congenital muscular dystrophy v3.9 HNRNPA2B1 Sarah Leigh edited their review of gene: HNRNPA2B1: Added comment: PMID: 35484142 reports nine heterozygous terminating HNRNPA2B1 variants in ten unrelated cases of early onset severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD); Changed rating: GREEN; Changed publications to: 35484142; Changed phenotypes to: early-onset oculopharyngeal muscular dystrophy
Congenital muscular dystrophy v3.9 HNRNPA2B1 Sarah Leigh Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy to ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, MONDO:0014178
Congenital muscular dystrophy v3.8 HNRNPA2B1 Sarah Leigh Publications for gene: HNRNPA2B1 were set to https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext
Congenital muscular dystrophy v3.7 GOSR2 Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: GOSR2.
Congenital muscular dystrophy v3.7 GOSR2 Achchuthan Shanmugasundram Publications for gene: GOSR2 were set to 29855340
Congenital muscular dystrophy v3.6 GOSR2 Achchuthan Shanmugasundram Classified gene: GOSR2 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.6 GOSR2 Achchuthan Shanmugasundram Gene: gosr2 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.5 GOSR2 Achchuthan Shanmugasundram reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340, 33639315, 34167170; Phenotypes: Congenital muscular dystrophy, MONDO:0019950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v3.5 BET1 Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: BET1.
Congenital muscular dystrophy v3.5 BET1 Achchuthan Shanmugasundram Phenotypes for gene: BET1 were changed from Congenital muscular dystrophy with epilepsy to Congenital muscular dystrophy, MONDO:0019950
Congenital muscular dystrophy v3.4 BET1 Achchuthan Shanmugasundram Publications for gene: BET1 were set to
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Classified gene: BET1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Gene: bet1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Classified gene: BET1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Gene: bet1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Classified gene: BET1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.3 BET1 Achchuthan Shanmugasundram Gene: bet1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.2 BET1 Achchuthan Shanmugasundram Classified gene: BET1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.2 BET1 Achchuthan Shanmugasundram Gene: bet1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.2 BET1 Achchuthan Shanmugasundram Classified gene: BET1 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.2 BET1 Achchuthan Shanmugasundram Gene: bet1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.1 BET1 Achchuthan Shanmugasundram reviewed gene: BET1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34779586; Phenotypes: Congenital muscular dystrophy, MONDO:0019950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital muscular dystrophy v3.0 Catherine Snow promoted panel to version 3.0
Congenital muscular dystrophy v2.31 POGLUT1 Anna Sarkozy changed review comment from: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies shows evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signaling pathway, as JAG2. Inview of these evidences, this gene should be considered green for CMD panel as well, in addition to LGMD panel.; to: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2. In view of these evidences, this gene should be considered green for CMD panel as well, in addition to LGMD panel.
Congenital muscular dystrophy v2.31 POGLUT1 Anna Sarkozy reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33861953; Phenotypes: muscular dystrophy, secondary alpha-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.31 JAG2 Anna Sarkozy reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33861953; Phenotypes: muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.31 HNRNPA2B1 Anna Sarkozy edited their review of gene: HNRNPA2B1: Added comment: ten independent families reported with a severe, progressive muscular dystrophy with early onset, and de novo frameshift variants in this gene. phenotype is caractherised by symptoms onset before 2 years of age with severe respiratory insufficiency, delayed motor milestones, ptosis and ophthalmoplegia, axial weakness, progressive proximal and distal weakness. Creatine kinase levels were elevated. Disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and alter the nucleocytoplasmic transport dynamics. in view of this evidence this gene should be upgraded to green; Changed publications to: 35484142; Changed phenotypes to: early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy
Congenital muscular dystrophy v2.31 GGPS1 Anna Sarkozy reviewed gene: GGPS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35869884, 32403198; Phenotypes: GGPS1-associated muscular dystrophy with and without hearing loss.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.31 DPM3 Anna Sarkozy reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19576565, 35932216, 33200426, 31266720; Phenotypes: Congenital muscular dystrophy, secondary alpha-dystroglycanopathy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.31 MYMK Eleanor Williams commented on gene: MYMK
Congenital muscular dystrophy v2.31 MYMK Eleanor Williams Tag Q3_21_rating tag was added to gene: MYMK.
Congenital muscular dystrophy v2.31 LMNA Arina Puzriakova commented on gene: LMNA: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Congenital muscular dystrophy v2.30 DPM3 Arina Puzriakova commented on gene: DPM3
Congenital muscular dystrophy v2.29 DPM3 Arina Puzriakova Source Expert Review Red was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.28 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670 to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Congenital muscular dystrophy v2.27 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v2.24 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.23 LMNA Arina Puzriakova commented on gene: LMNA
Congenital muscular dystrophy v2.22 LMNA Arina Puzriakova Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.21 HNRNPA2B1 Sarah Leigh commented on gene: HNRNPA2B1: The Q1_22_rating tag has been added as the GMS review for this gene has not been received to date
Congenital muscular dystrophy v2.21 HNRNPA2B1 Sarah Leigh Tag Q1_22_rating tag was added to gene: HNRNPA2B1.
Congenital muscular dystrophy v2.21 BET1 Dmitrijs Rots reviewed gene: BET1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34779586; Phenotypes: Congenital muscular dystrophy, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.21 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital muscular dystrophy v2.20 COL6A3 Arina Puzriakova Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Congenital muscular dystrophy v2.19 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Congenital muscular dystrophy v2.18 MYMK Ivone Leong commented on gene: MYMK
Congenital muscular dystrophy v2.18 MYMK Ivone Leong Tag Q3_21_expert_review tag was added to gene: MYMK.
Tag Q3_21_phenotype tag was added to gene: MYMK.
Congenital muscular dystrophy v2.18 GGPS1 Ivone Leong Tag Q4_21_rating tag was added to gene: GGPS1.
Congenital muscular dystrophy v2.18 GGPS1 Ivone Leong Classified gene: GGPS1 as Amber List (moderate evidence)
Congenital muscular dystrophy v2.18 GGPS1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.

PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.

There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Congenital muscular dystrophy v2.18 GGPS1 Ivone Leong Gene: ggps1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v2.17 GGPS1 Ivone Leong Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Congenital muscular dystrophy v2.16 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34167170, 33639315, 33639315, 29855340, DOI:https://doi.org/10.1016/j.nmd.2013.06.404; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, congenital muscluar dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.16 GMPPB Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Congenital muscular dystrophy v2.15 FHL1 Ivone Leong Publications for gene: FHL1 were set to
Congenital muscular dystrophy v2.14 CAVIN1 Ivone Leong Tag Q3_21_rating tag was added to gene: CAVIN1.
Congenital muscular dystrophy v2.14 CAVIN1 Ivone Leong Classified gene: CAVIN1 as Amber List (moderate evidence)
Congenital muscular dystrophy v2.14 CAVIN1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Congenital muscular dystrophy v2.14 CAVIN1 Ivone Leong Gene: cavin1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v2.13 CAVIN1 Ivone Leong Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 (MIM#613327) to Lipodystrophy, congenital generalized, type 4, OMIM:613327
Congenital muscular dystrophy v2.12 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799
Congenital muscular dystrophy v2.11 DPM1 Arina Puzriakova Publications for gene: DPM1 were set to 23109149; 23856421
Congenital muscular dystrophy v2.10 DPM1 Arina Puzriakova Tag watchlist tag was added to gene: DPM1.
Congenital muscular dystrophy v2.10 DPM1 Arina Puzriakova reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10642597, 10642602, 15669674, 16641202, 23856421, 27481510, 28139241, 30653653; Phenotypes: Congenital disorder of glycosylation, type Ie, OMIM:608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.10 JAG2 Eleanor Williams Classified gene: JAG2 as Amber List (moderate evidence)
Congenital muscular dystrophy v2.10 JAG2 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for a green rating at the next review. 13 cases reported with muscular dystrophy and variants in JAG2.
Congenital muscular dystrophy v2.10 JAG2 Eleanor Williams Gene: jag2 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v2.9 JAG2 Eleanor Williams Tag Q2_21_rating tag was added to gene: JAG2.
Congenital muscular dystrophy v2.9 JAG2 Eleanor Williams Phenotypes for gene: JAG2 were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121
Congenital muscular dystrophy v2.8 JAG2 Eleanor Williams reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861953; Phenotypes: muscular dystrophy, MONDO:0020121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.8 JAG2 Zornitza Stark gene: JAG2 was added
gene: JAG2 was added to Congenital muscular dystrophy. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
gene: JAG2 was marked as current diagnostic
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Congenital muscular dystrophy v2.8 DPM2 Arina Puzriakova Phenotypes for gene: DPM2 were changed from musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh changed review comment from: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy with Brain involvment; to: Comment on phenotypes:
Congenital muscular dystrophy with Brain involvment
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh Added comment: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy with Brain involvment
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy v2.6 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome, 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh changed review comment from: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext).
This source is a meeting abstract an there is no peer reviewed source at this time.; to: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext).
This source is a meeting abstract an there is no peer reviewed source at this time.

There is enough evidence for this gene to be green, but GMS opinion is required to confirm this.
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh Tag watchlist tag was added to gene: HNRNPA2B1.
Tag for-review tag was added to gene: HNRNPA2B1.
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh Publications for gene: HNRNPA2B1 were set to
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh Added comment: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext).
This source is a meeting abstract an there is no peer reviewed source at this time.
Congenital muscular dystrophy v2.5 HNRNPA2B1 Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v2.4 HNRNPA2B1 Anna Sarkozy gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Congenital muscular dystrophy. Sources: Other,Expert list,Research
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPA2B1 were set to oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy
Review for gene: HNRNPA2B1 was set to GREEN
Added comment: de novo variants in this gene have been reported in multiple unrelated families and presented at the World muscle society congress 2020, a full publication is currently in progress. see abstract:
https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext
Sources: Other, Expert list, Research
Congenital muscular dystrophy v2.4 GGPS1 Zornitza Stark gene: GGPS1 was added
gene: GGPS1 was added to Congenital muscular dystrophy. Sources: Literature
Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGPS1 were set to 32403198
Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency
Review for gene: GGPS1 was set to GREEN
gene: GGPS1 was marked as current diagnostic
Added comment: 11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Sources: Literature
Congenital muscular dystrophy v2.4 MYMK Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome (MIM #254940); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.4 FHL1 Zornitza Stark reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19181672, 19171836; Phenotypes: Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital muscular dystrophy v2.4 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v2.4 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 31469168, 31266720, 28803818; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: None
Congenital muscular dystrophy v2.4 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Congenital muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876; 12116229
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327)
Review for gene: CAVIN1 was set to GREEN
gene: CAVIN1 was marked as current diagnostic
Added comment: Muscular dystrophy as well as lipodystrophy.
Sources: Expert list
Congenital muscular dystrophy v2.4 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Congenital muscular dystrophy v2.3 Catherine Snow Panel version has been signed off
Congenital muscular dystrophy v2.2 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital muscular dystrophy v2.0 Louise Daugherty promoted panel to version 2.0
Congenital muscular dystrophy v1.78 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital muscular dystrophy v1.77 SYNE1 Louise Daugherty Source was removed from SYNE1.
Source NHS GMS was added to SYNE1.
Congenital muscular dystrophy v1.76 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Congenital muscular dystrophy v1.75 LMNA Louise Daugherty Source was removed from LMNA.
Source NHS GMS was added to LMNA.
Congenital muscular dystrophy v1.74 DMD Louise Daugherty Source was removed from DMD.
Source NHS GMS was added to DMD.
Congenital muscular dystrophy v1.73 FHL1 Louise Daugherty Source NHS GMS was added to FHL1.
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Classified gene: FHL1 as Green List (high evidence)
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Added comment: Comment on list classification: Green gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Noted causing a very severe early onset condition.
Congenital muscular dystrophy v1.72 FHL1 Louise Daugherty Gene: fhl1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.71 FHL1 Louise Daugherty gene: FHL1 was added
gene: FHL1 was added to Congenital muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Review for gene: FHL1 was set to AMBER
Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off
Sources: Expert Review
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Classified gene: RYR1 as Red List (low evidence)
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- this should not be on this panel
Congenital muscular dystrophy v1.70 RYR1 Louise Daugherty Gene: ryr1 has been classified as Red List (Low Evidence).
Congenital muscular dystrophy v1.69 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Congenital muscular dystrophy v1.68 PLEC Louise Daugherty Classified gene: PLEC as Green List (high evidence)
Congenital muscular dystrophy v1.68 PLEC Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Congenital muscular dystrophy v1.68 PLEC Louise Daugherty Gene: plec has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty changed review comment from: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.; to: Added publications to support green rating. PMID: 28447722 second report on plectin associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel. From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty changed review comment from: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.; to: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty commented on gene: PLEC: From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty changed review comment from: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.; to: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Classified gene: PLEC as Amber List (moderate evidence)
Congenital muscular dystrophy v1.67 PLEC Louise Daugherty Gene: plec has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty commented on gene: PLEC: Added publication to support second report on plectin‑associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel- Provisional rated Amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Added comment: Comment on publications: added further publications to support the Green rating
Congenital muscular dystrophy v1.66 PLEC Louise Daugherty Publications for gene: PLEC were set to 21109228
Congenital muscular dystrophy v1.65 PLEC Louise Daugherty Deleted their comment
Congenital muscular dystrophy v1.65 PLEC Louise Daugherty commented on gene: PLEC: Only one case reported with variants in this gene and CMD, provisionally rated Red pending further cases or expert opinion.
Congenital muscular dystrophy v1.65 DPM1 Louise Daugherty commented on gene: DPM1: Only one case reported with variants in this gene and CMD, not sure it fulfils the criteria to be a green gene. Provisional rated Amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.65 DPM3 Louise Daugherty commented on gene: DPM3: Only one case reported with variants in this gene and CMD, not sure it fulfils the criteria to be a green gene. Provisional rated Amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.65 DPM3 Louise Daugherty Phenotypes for gene: DPM3 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Io 612937 to congenital muscular dystrophies; Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Congenital muscular dystrophy v1.64 COL4A1 Louise Daugherty Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease to walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780
Congenital muscular dystrophy v1.63 GOLGA2 Louise Daugherty commented on gene: GOLGA2: After review with Genomics England clinical team this gene was provisionally rated Amber on the basis of one family, as it is difficult to be confident about the extent of the phenotype so amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.63 Louise Daugherty List of related panels changed from to R79
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Classified gene: TRAPPC11 as Green List (high evidence)
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.
Congenital muscular dystrophy v1.62 TRAPPC11 Louise Daugherty Gene: trappc11 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.61 TRAPPC11 Louise Daugherty edited their review of gene: TRAPPC11: Added comment: Reviewed by Genomics England clinical team who noted the phenotype described in the OMIM cases have significant overlap with those described as 'Congenital muscular dystrophy'. There is a relevant muscular phenotype with onset in infancy / early childhood, a raised CK and dystrophic changes on muscle biopsy. The GLH representative has rated it green so would support green rating based on the evidence. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN
Congenital muscular dystrophy v1.61 SIL1 Louise Daugherty Classified gene: SIL1 as Green List (high evidence)
Congenital muscular dystrophy v1.61 SIL1 Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.
Congenital muscular dystrophy v1.61 SIL1 Louise Daugherty Gene: sil1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.60 SIL1 Louise Daugherty edited their review of gene: SIL1: Added comment: Reviewed by Genomics England clinical team who noted it is associated with a raised CK, muscle weakness and abnormalities on biopsy so a relevant phenotype. The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN
Congenital muscular dystrophy v1.60 POGLUT1 Ivone Leong Tag watchlist tag was added to gene: POGLUT1.
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TRAPPC11 is associated with Muscular dystrophy, limb-girdle, autosomal recessive 18 in OMIM and Gene2Phenotype. There are 2 published cases of unrelated patients with congenital muscular dystrophy who have different variants in TRAPPC11 (PMID: 26322222; 29855340). There are >3 cases of patients with LGMD who have variants in this gene. Clinical input might be required to determine whether this gene should be green on this panel.
Congenital muscular dystrophy v1.60 TRAPPC11 Ivone Leong Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.59 TRAPPC11 Ivone Leong Publications for gene: TRAPPC11 were set to 26322222
Congenital muscular dystrophy v1.58 MSTO1 Ivone Leong changed review comment from: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy.; to: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378;29339779) of patients with different variants in this gene who have muscular dystrophy.
Congenital muscular dystrophy v1.58 MSTO1 Ivone Leong Publications for gene: MSTO1 were set to 28544275; 28554942; 31130378
Congenital muscular dystrophy v1.57 TRAPPC11 Ivone Leong Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness to congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Congenital muscular dystrophy v1.56 SIL1 Ivone Leong Classified gene: SIL1 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.56 SIL1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. SIL1 is associated with Marinesco-Sjogren syndrome in OMIM and Gene2Phenotype. There are >3 unrelated cases reported in OMIM so in terms of evidence, there is enough evidence to support a gene-disease association. Muscular dystrophy is one of the characteristics of Marinesco-Sjogren syndrome; however, clinical input as to whether SIL1 belongs in this panel is needed.
Congenital muscular dystrophy v1.56 SIL1 Ivone Leong Gene: sil1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong changed review comment from: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.; to: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.

However, this gene may be more appropriate in the LGMD panel (code: 185) instead of this one.
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong changed review comment from: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.; to: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong changed review comment from: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.; to: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong changed review comment from: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.; to: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong Classified gene: POGLUT1 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. POGLUT1 may be associated with LGMD on OMIM but not associated with any phenotype in Gene2Phenotype. PMID: 27807076 reported on a family (Spanish descent) of 4 affected siblings with recessive limb-girdle muscular dystrophy 21 born from consanguineous parents. All affected siblings were homozygous for a missense variant in POGLUT1. The same study also reported on a Drosophila model where the variant affected muscle development. There is currently not enough evidence to support a gene-disease assocation (only 1 reported case and 1 animal model), therefore POGLUT1 has been given amber gene rating until further evidence is available where the gene status can be re-evaluated.
Congenital muscular dystrophy v1.55 POGLUT1 Ivone Leong Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Classified gene: MSTO1 as Green List (high evidence)
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy.
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Gene: msto1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.53 MSTO1 Ivone Leong Added comment: Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases.
Congenital muscular dystrophy v1.53 MSTO1 Ivone Leong Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.52 MSTO1 Ivone Leong Publications for gene: MSTO1 were set to 28544275
Congenital muscular dystrophy v1.51 GOSR2 Ivone Leong reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Classified gene: GOLGA2 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. GOLGA2 is not associated with any phenotype on OMIM or Gene2Phenotype. As the case presented in PMID: 30237576 lacked any information about patient family history, it is unclear whether the variant tracks with the phenotype. Therefore, given this gene an amber rating until further evidence is available.
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Gene: golga2 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v1.50 GOLGA2 Ivone Leong Added comment: Comment on publications: PMID: 26742501 reported on a consanguineous Saudi family where the proband is diagnosed with a neuromuscular disorder characterized by developmental delay, seizures, microcephaly and muscular dystrophy. The proband is homozygous for a small deletion in the GOLGA2 gene which resulted in a frameshift mutation. The same researchers knocked down zebrafish golga2 and showed that this affected the skeletal muscles of the fish and recapitulated the human phenotype.

PMID: 30237576 is a large, high-throughput Mendelian disease study. One patient with global developmental delay, microcephaly and motor weakness affecting lower extremities. Muscle biopsy showed muscular dystrophy. The patient is homozygous for a different small deletion variant that causes frameshift mutation. No other details are given about family history/pedigree.
Congenital muscular dystrophy v1.50 GOLGA2 Ivone Leong Publications for gene: GOLGA2 were set to
Congenital muscular dystrophy v1.47 MYMK Louise Daugherty Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940
Congenital muscular dystrophy v1.46 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs to Myopathy with extrapyramidal signs, 615673
Congenital muscular dystrophy v1.45 PLEC Louise Daugherty Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.44 TMEM5 Louise Daugherty Publications for gene TMEM5 were changed from to 16282978
Congenital muscular dystrophy v1.44 SIL1 Louise Daugherty Publications for gene SIL1 were changed from to 11528383
Congenital muscular dystrophy v1.44 SELENON Louise Daugherty Publications for gene SELENON were changed from to 23217329
Congenital muscular dystrophy v1.44 POMT2 Louise Daugherty Publications for gene POMT2 were changed from to 15894594; 17559086
Congenital muscular dystrophy v1.44 POMT1 Louise Daugherty Publications for gene POMT1 were changed from to 12369018
Congenital muscular dystrophy v1.44 POMK Louise Daugherty Publications for gene POMK were changed from to 23519211; 24556084
Congenital muscular dystrophy v1.44 POMGNT2 Louise Daugherty Publications for gene POMGNT2 were changed from to 22958903; 27066570
Congenital muscular dystrophy v1.44 POMGNT1 Louise Daugherty Publications for gene POMGNT1 were changed from to 11709191; 12588800
Congenital muscular dystrophy v1.44 MICU1 Louise Daugherty Publications for gene MICU1 were changed from to 24336167
Congenital muscular dystrophy v1.44 LARGE1 Louise Daugherty Publications for gene LARGE1 were changed from to 12966029
Congenital muscular dystrophy v1.44 LAMA2 Louise Daugherty Publications for gene LAMA2 were changed from to 12552556; 7550355
Congenital muscular dystrophy v1.44 ITGA7 Louise Daugherty Publications for gene ITGA7 were changed from 9590299; 26076707; 18045857 to 9590299; 18045857; 26076707
Congenital muscular dystrophy v1.44 ISPD Louise Daugherty Publications for gene ISPD were changed from to 22522420, 22522421
Congenital muscular dystrophy v1.44 GMPPB Louise Daugherty Publications for gene GMPPB were changed from 23768512; 26133662 to 26133662; 23768512
Congenital muscular dystrophy v1.44 FKTN Louise Daugherty Publications for gene FKTN were changed from to 12601708; 14627679
Congenital muscular dystrophy v1.44 FKRP Louise Daugherty Publications for gene FKRP were changed from to 11592034
Congenital muscular dystrophy v1.44 DPM2 Louise Daugherty Publications for gene DPM2 were changed from 23109149; 19901254 to 19901254; 23109149
Congenital muscular dystrophy v1.44 DPM1 Louise Daugherty Publications for gene DPM1 were changed from 23856421; 23109149 to 23109149; 23856421
Congenital muscular dystrophy v1.44 DOLK Louise Daugherty Publications for gene DOLK were changed from 23890587; 22242004; 17273964 to 17273964; 22242004; 23890587
Congenital muscular dystrophy v1.44 DAG1 Louise Daugherty Publications for gene DAG1 were changed from 25934851; 24052401; 22810924 (functional evidence); 26380289 (review of mouse models) to 26380289; 24052401; 25934851; 22810924
Congenital muscular dystrophy v1.44 COL6A3 Louise Daugherty Publications for gene COL6A3 were changed from to 15689448
Congenital muscular dystrophy v1.44 COL6A2 Louise Daugherty Publications for gene COL6A2 were changed from to 15689448
Congenital muscular dystrophy v1.44 COL6A1 Louise Daugherty Publications for gene COL6A1 were changed from to 15955946; 23738969; 25535305
Congenital muscular dystrophy v1.44 COL4A2 Louise Daugherty Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604
Congenital muscular dystrophy v1.44 COL12A1 Louise Daugherty Publications for gene COL12A1 were changed from 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy. to 24334769; 24334604; 27348394
Congenital muscular dystrophy v1.44 CHKB Louise Daugherty Publications for gene CHKB were changed from to 16371353, 21665002
Congenital muscular dystrophy v1.44 B4GAT1 Louise Daugherty Publications for gene B4GAT1 were changed from 23359570; 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1 to 23877401; 23359570
Congenital muscular dystrophy v1.43 TRAPPC11 Louise Daugherty reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 TMEM5 Louise Daugherty edited their review of gene: TMEM5: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 POMT2 Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMT1 Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POMGNT1 Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 POGLUT1 Louise Daugherty reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 PLEC Louise Daugherty reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 MSTO1 Louise Daugherty reviewed gene: MSTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 MICU1 Louise Daugherty reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 LARGE1 Louise Daugherty edited their review of gene: LARGE1: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 LAMA2 Louise Daugherty reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 ITGA7 Louise Daugherty reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital muscular dystrophy v1.43 INPP5K Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GOLGA2 Louise Daugherty reviewed gene: GOLGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 FKRP Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM3 Louise Daugherty reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM2 Louise Daugherty reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DPM1 Louise Daugherty reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DOLK Louise Daugherty reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL4A2 Louise Daugherty reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 CHKB Louise Daugherty reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 BET1 Louise Daugherty reviewed gene: BET1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 B4GAT1 Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.43 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.42 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Congenital muscular dystrophy v1.41 SIL1 Louise Daugherty Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.40 POGLUT1 Louise Daugherty Publications for gene: POGLUT1 were set to
Congenital muscular dystrophy v1.39 POGLUT1 Louise Daugherty Phenotypes for gene: POGLUT1 were changed from to ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Congenital muscular dystrophy v1.38 POGLUT1 Louise Daugherty Mode of inheritance for gene: POGLUT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.37 PLEC Louise Daugherty Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670 to Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670
Congenital muscular dystrophy v1.36 PLEC Louise Daugherty Publications for gene: PLEC were set to
Congenital muscular dystrophy v1.35 MSTO1 Louise Daugherty Mode of inheritance for gene: MSTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.34 MSTO1 Louise Daugherty Phenotypes for gene: MSTO1 were changed from to Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675
Congenital muscular dystrophy v1.33 MSTO1 Louise Daugherty Publications for gene: MSTO1 were set to
Congenital muscular dystrophy v1.32 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Congenital muscular dystrophy v1.31 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Congenital muscular dystrophy v1.30 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.29 GOLGA2 Louise Daugherty Phenotypes for gene: GOLGA2 were changed from to Secondary dystroglycanopathy
Congenital muscular dystrophy v1.28 GOLGA2 Louise Daugherty Mode of inheritance for gene: GOLGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.27 BET1 Louise Daugherty Phenotypes for gene: BET1 were changed from to Congenital muscular dystrophy with epilepsy
Congenital muscular dystrophy v1.26 BET1 Louise Daugherty Mode of inheritance for gene: BET1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.25 DPM1 Louise Daugherty Publications for gene: DPM1 were set to 23856421 - an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan immunostaining with glycoepitope-specific antibodies in a pattern diagnostic of dystroglycanopathy. The infant was compound heterozygous for a novel missense variant and an intragenic deletion from exons 3-7. In vitro studies showed decreased DPM1 activity in fibroblasts, and reduced binding to DPM3; 23109149 - DPM2-CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies
Congenital muscular dystrophy v1.24 TRAPPC11 Rachael Mein reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26322222; Phenotypes: Congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract, infantile-onset muscle weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 TMEM5 Rachael Mein reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16282978; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 10, 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 SIL1 Rachael Mein reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528383; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 SELENON Rachael Mein reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 23217329; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMT2 Rachael Mein reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15894594, 17559086; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMT1 Rachael Mein reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12369018; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA,1 236670: type B,1, 613155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMK Rachael Mein reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519211, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMGNT2 Rachael Mein reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903, 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type, Walker-Warburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POMGNT1 Rachael Mein reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11709191, 12588800; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 POGLUT1 Rachael Mein reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27807076; Phenotypes: ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 PLEC Rachael Mein reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 21109228; Phenotypes: Muscular dystrophy, limb-girdle autosomal recessive 17, 613723, Epidermolysis bullosa simplex with muscular dystrophy, 226670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 MSTO1 Rachael Mein reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28544275; Phenotypes: Congenital muscular dystrophy with Brain involvment, Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 MICU1 Rachael Mein reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: Myopathy with extrapyramidal signs, 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 LARGE1 Rachael Mein reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966029; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 LAMA2 Rachael Mein reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550355, 12552556; Phenotypes: Congenital Muscular Dystrophy, LAMA2-related, Muscular dystrophy, congenital merosin-deficient, 607855, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 ITGA7 Rachael Mein reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299, 26076707, 18045857; Phenotypes: Congenital Muscular Dystrophy, ITGA7-related, Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 ISPD Rachael Mein reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 22522421; Phenotypes: Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type, Walker-Warburg syndrome (WWS), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 INPP5K Rachael Mein reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: ; Publications: 28190459, 28190456; Phenotypes: Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy, Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 GOSR2 Rachael Mein reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29855340; Phenotypes: Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 GOLGA2 Rachael Mein reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: secondary dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 GMPPB Rachael Mein reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512, 26133662; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 FKTN Rachael Mein reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 14627679, 12601708; Phenotypes: Fukuyama congenital muscular dystrophy, Fukuyama Congenital Muscular Dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 FKRP Rachael Mein reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11592034; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM3 Rachael Mein reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565; Phenotypes: Congenital muscular dystrophies, Congenital disorder of glycosylation, type Io 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM2 Rachael Mein reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23109149, 19901254; Phenotypes: Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy, Congenital disorder of glycosylation, type Iu 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DPM1 Rachael Mein reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23856421, 23109149; Phenotypes: congenital muscular dystrophies, Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DOLK Rachael Mein reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23890587, 22242004, 17273964; Phenotypes: Congenital disorder of glycosylation, type Im; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 DAG1 Rachael Mein reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25934851, 24052401, 22810924, 26380289; Phenotypes: Congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538, Walker-Warburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A3 Rachael Mein reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A2 Rachael Mein reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689448; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL6A1 Rachael Mein reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25535305, 15955946, 23738969; Phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL4A2 Rachael Mein reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: ; Publications: 22037604; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL4A1 Rachael Mein reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28056338, 22037604, 21625620; Phenotypes: walker warburg syndrome, muscle eye brain disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital muscular dystrophy v1.24 COL12A1 Rachael Mein reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604, 27348394, 24334769; Phenotypes: Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 CHKB Rachael Mein reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16371353, 21665002; Phenotypes: Congenital Muscular Dystrophy, CKHB-related, Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 BET1 Rachael Mein reviewed gene: BET1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital muscular dystrophy with epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 B4GAT1 Rachael Mein reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.24 B3GALNT2 Rachael Mein reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11, congenital muscular dystrophies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 TRAPPC11 Louise Daugherty Source NHS GMS was added to TRAPPC11.
Congenital muscular dystrophy v1.23 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Congenital muscular dystrophy v1.23 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Congenital muscular dystrophy v1.23 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Congenital muscular dystrophy v1.23 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Congenital muscular dystrophy v1.23 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Congenital muscular dystrophy v1.23 POMK Louise Daugherty Source NHS GMS was added to POMK.
Congenital muscular dystrophy v1.23 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Congenital muscular dystrophy v1.23 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Congenital muscular dystrophy v1.23 POGLUT1 Louise Daugherty Source NHS GMS was added to POGLUT1.
Congenital muscular dystrophy v1.23 PLEC Louise Daugherty Source NHS GMS was added to PLEC.
Congenital muscular dystrophy v1.23 MSTO1 Louise Daugherty Source NHS GMS was added to MSTO1.
Congenital muscular dystrophy v1.23 MICU1 Louise Daugherty Source NHS GMS was added to MICU1.
Congenital muscular dystrophy v1.23 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Congenital muscular dystrophy v1.23 LAMA2 Louise Daugherty Source NHS GMS was added to LAMA2.
Congenital muscular dystrophy v1.23 ITGA7 Louise Daugherty Source NHS GMS was added to ITGA7.
Congenital muscular dystrophy v1.23 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Congenital muscular dystrophy v1.23 INPP5K Louise Daugherty Source NHS GMS was added to INPP5K.
Congenital muscular dystrophy v1.23 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Congenital muscular dystrophy v1.23 GOLGA2 Louise Daugherty Source NHS GMS was added to GOLGA2.
Congenital muscular dystrophy v1.23 GMPPB Louise Daugherty Source NHS GMS was added to GMPPB.
Congenital muscular dystrophy v1.23 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Congenital muscular dystrophy v1.23 FKRP Louise Daugherty Source NHS GMS was added to FKRP.
Congenital muscular dystrophy v1.23 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Congenital muscular dystrophy v1.23 DPM2 Louise Daugherty Source NHS GMS was added to DPM2.
Congenital muscular dystrophy v1.23 DPM1 Louise Daugherty Source NHS GMS was added to DPM1.
Congenital muscular dystrophy v1.23 DOLK Louise Daugherty Source NHS GMS was added to DOLK.
Congenital muscular dystrophy v1.23 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Congenital muscular dystrophy v1.23 COL6A3 Louise Daugherty Source NHS GMS was added to COL6A3.
Congenital muscular dystrophy v1.23 COL6A2 Louise Daugherty Source NHS GMS was added to COL6A2.
Congenital muscular dystrophy v1.23 COL6A1 Louise Daugherty Source NHS GMS was added to COL6A1.
Congenital muscular dystrophy v1.23 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Congenital muscular dystrophy v1.23 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Congenital muscular dystrophy v1.23 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Congenital muscular dystrophy v1.23 CHKB Louise Daugherty Source NHS GMS was added to CHKB.
Congenital muscular dystrophy v1.23 BET1 Louise Daugherty Source NHS GMS was added to BET1.
Congenital muscular dystrophy v1.23 B4GAT1 Louise Daugherty Source NHS GMS was added to B4GAT1.
Congenital muscular dystrophy v1.23 B3GALNT2 Louise Daugherty Source NHS GMS was added to B3GALNT2.
Congenital muscular dystrophy v1.22 TRAPPC11 Louise Daugherty Source London South GLH was added to TRAPPC11.
Congenital muscular dystrophy v1.22 TMEM5 Louise Daugherty Source London South GLH was added to TMEM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 SIL1 Louise Daugherty gene: SIL1 was added
gene: SIL1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: SIL1 was set to
Congenital muscular dystrophy v1.22 SELENON Louise Daugherty Source London South GLH was added to SELENON.
Congenital muscular dystrophy v1.22 POMT2 Louise Daugherty Source London South GLH was added to POMT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMT1 Louise Daugherty Source London South GLH was added to POMT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMK Louise Daugherty Source London South GLH was added to POMK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMGNT2 Louise Daugherty Source London South GLH was added to POMGNT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POMGNT1 Louise Daugherty Source London South GLH was added to POMGNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 POGLUT1 Louise Daugherty gene: POGLUT1 was added
gene: POGLUT1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: POGLUT1 was set to
Congenital muscular dystrophy v1.22 PLEC Louise Daugherty Source London South GLH was added to PLEC.
Congenital muscular dystrophy v1.22 MSTO1 Louise Daugherty gene: MSTO1 was added
gene: MSTO1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: MSTO1 was set to
Congenital muscular dystrophy v1.22 MICU1 Louise Daugherty Source London South GLH was added to MICU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 LARGE1 Louise Daugherty Source London South GLH was added to LARGE1.
Congenital muscular dystrophy v1.22 LAMA2 Louise Daugherty Source London South GLH was added to LAMA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 ITGA7 Louise Daugherty Source London South GLH was added to ITGA7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 ISPD Louise Daugherty Source London South GLH was added to ISPD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 INPP5K Louise Daugherty Source London South GLH was added to INPP5K.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 GOSR2 Louise Daugherty gene: GOSR2 was added
gene: GOSR2 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: GOSR2 was set to
Congenital muscular dystrophy v1.22 GOLGA2 Louise Daugherty gene: GOLGA2 was added
gene: GOLGA2 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: GOLGA2 was set to
Congenital muscular dystrophy v1.22 GMPPB Louise Daugherty Source London South GLH was added to GMPPB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 FKTN Louise Daugherty Source London South GLH was added to FKTN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 FKRP Louise Daugherty Source London South GLH was added to FKRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DPM3 Louise Daugherty Source London South GLH was added to DPM3.
Congenital muscular dystrophy v1.22 DPM2 Louise Daugherty Source London South GLH was added to DPM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DPM1 Louise Daugherty Source London South GLH was added to DPM1.
Congenital muscular dystrophy v1.22 DOLK Louise Daugherty Source London South GLH was added to DOLK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 DAG1 Louise Daugherty Source London South GLH was added to DAG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A3 Louise Daugherty Source London South GLH was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A2 Louise Daugherty Source London South GLH was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL6A1 Louise Daugherty Source London South GLH was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 COL4A2 Louise Daugherty Source London South GLH was added to COL4A2.
Congenital muscular dystrophy v1.22 COL4A1 Louise Daugherty Source London South GLH was added to COL4A1.
Congenital muscular dystrophy v1.22 COL12A1 Louise Daugherty Source London South GLH was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 CHKB Louise Daugherty Source London South GLH was added to CHKB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 BET1 Louise Daugherty gene: BET1 was added
gene: BET1 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: BET1 was set to
Congenital muscular dystrophy v1.22 B4GAT1 Louise Daugherty Source London South GLH was added to B4GAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.22 B3GALNT2 Louise Daugherty Source London South GLH was added to B3GALNT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.21 ISPD Louise Daugherty commented on gene: ISPD
Congenital muscular dystrophy v1.21 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Congenital muscular dystrophy v1.21 DMPK_CTG Louise Daugherty GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital muscular dystrophy v1.19 DMPK_CTG Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900
Congenital muscular dystrophy v1.18 DMPK_CTG Louise Daugherty Tag STR tag was added to STR: DMPK_CTG.
Congenital muscular dystrophy v1.18 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Congenital muscular dystrophy v1.18 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources
Congenital muscular dystrophy v1.18 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.18 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Congenital muscular dystrophy v1.18 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.17 DMPK_CTG Arianna Tucci STR: DMPK_CTG was added
STR: DMPK_CTG was added to Congenital muscular dystrophy. Sources: Expert Review
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: DMPK_CTG was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Congenital muscular dystrophy v1.16 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Congenital muscular dystrophy DMD Ellen McDonagh edited their review of DMD
Congenital muscular dystrophy TMEM5 Louise Daugherty commented on TMEM5
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger added TRAPPC11 to panel
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger reviewed TRAPPC11
Congenital muscular dystrophy TMEM8C Sarah Leigh classified TMEM8C as green
Congenital muscular dystrophy TMEM8C Sarah Leigh added TMEM8C to panel
Congenital muscular dystrophy TMEM8C Sarah Leigh reviewed TMEM8C
Congenital muscular dystrophy INPP5K Ellen McDonagh classified INPP5K as green
Congenital muscular dystrophy INPP5K Ellen McDonagh added INPP5K to panel
Congenital muscular dystrophy INPP5K Ellen McDonagh reviewed INPP5K
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as green
Congenital muscular dystrophy Ellen McDonagh promoted panel to version 1
Congenital muscular dystrophy TCAP Ellen McDonagh marked TCAP as ready
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy SYNE1 Ellen McDonagh marked SYNE1 as ready
Congenital muscular dystrophy SYNE1 Ellen McDonagh classified SYNE1 as green
Congenital muscular dystrophy ITGA7 Ellen McDonagh marked ITGA7 as ready
Congenital muscular dystrophy ITGA7 Ellen McDonagh classified ITGA7 as green
Congenital muscular dystrophy EMD Ellen McDonagh marked EMD as ready
Congenital muscular dystrophy EMD Ellen McDonagh classified EMD as red
Congenital muscular dystrophy DYSF Ellen McDonagh marked DYSF as ready
Congenital muscular dystrophy DYSF Ellen McDonagh classified DYSF as amber
Congenital muscular dystrophy DPM3 Ellen McDonagh marked DPM3 as ready
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM2 Ellen McDonagh marked DPM2 as ready
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as green
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as green
Congenital muscular dystrophy DPM1 Ellen McDonagh marked DPM1 as ready
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy COL4A1 Ellen McDonagh marked COL4A1 as ready
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy B4GAT1 Ellen McDonagh marked B4GAT1 as ready
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as amber
Congenital muscular dystrophy B4GAT1 Ellen McDonagh commented on B4GAT1
Congenital muscular dystrophy ACTA1 Ellen McDonagh marked ACTA1 as ready
Congenital muscular dystrophy ACTA1 Ellen McDonagh classified ACTA1 as amber
Congenital muscular dystrophy ACTA1 Ellen McDonagh commented on ACTA1
Congenital muscular dystrophy TCAP Arianna Tucci reviewed TCAP
Congenital muscular dystrophy SYNE1 Arianna Tucci reviewed SYNE1
Congenital muscular dystrophy ITGA7 Arianna Tucci commented on ITGA7
Congenital muscular dystrophy ITGA7 Arianna Tucci reviewed ITGA7
Congenital muscular dystrophy EMD Arianna Tucci reviewed EMD
Congenital muscular dystrophy DYSF Arianna Tucci reviewed DYSF
Congenital muscular dystrophy DPM3 Arianna Tucci reviewed DPM3
Congenital muscular dystrophy DPM1 Arianna Tucci reviewed DPM1
Congenital muscular dystrophy DPM2 Arianna Tucci commented on DPM2
Congenital muscular dystrophy DPM2 Arianna Tucci reviewed DPM2
Congenital muscular dystrophy COL4A1 Arianna Tucci reviewed COL4A1
Congenital muscular dystrophy B4GAT1 Arianna Tucci reviewed B4GAT1
Congenital muscular dystrophy ACTA1 Arianna Tucci commented on ACTA1
Congenital muscular dystrophy ACTA1 Arianna Tucci reviewed ACTA1
Congenital muscular dystrophy SYNE1 Ellen McDonagh commented on SYNE1
Congenital muscular dystrophy SYNE1 Ellen McDonagh classified SYNE1 as amber
Congenital muscular dystrophy DYSF Ellen McDonagh classified DYSF as amber
Congenital muscular dystrophy DYSF Ellen McDonagh commented on DYSF
Congenital muscular dystrophy TMEM43 Ellen McDonagh marked TMEM43 as ready
Congenital muscular dystrophy TMEM43 Ellen McDonagh classified TMEM43 as red
Congenital muscular dystrophy TMEM43 Ellen McDonagh commented on TMEM43
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy TCAP Ellen McDonagh commented on TCAP
Congenital muscular dystrophy PLEC Ellen McDonagh classified PLEC as red
Congenital muscular dystrophy PLEC Ellen McDonagh commented on PLEC
Congenital muscular dystrophy DUX4 Ellen McDonagh commented on DUX4
Congenital muscular dystrophy DUX4 Ellen McDonagh commented on DUX4
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM3 Ellen McDonagh commented on DPM3
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as amber
Congenital muscular dystrophy DPM2 Ellen McDonagh commented on DPM2
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as amber
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy DPM1 Ellen McDonagh commented on DPM1
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy COL4A2 Ellen McDonagh marked COL4A2 as ready
Congenital muscular dystrophy COL4A2 Ellen McDonagh classified COL4A2 as red
Congenital muscular dystrophy COL4A2 Ellen McDonagh commented on COL4A2
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy COL4A1 Ellen McDonagh commented on COL4A1
Congenital muscular dystrophy SEPN1 Ellen McDonagh marked SEPN1 as ready
Congenital muscular dystrophy SEPN1 Ellen McDonagh commented on SEPN1
Congenital muscular dystrophy POMT2 Ellen McDonagh marked POMT2 as ready
Congenital muscular dystrophy POMT2 Ellen McDonagh commented on POMT2
Congenital muscular dystrophy POMT1 Ellen McDonagh marked POMT1 as ready
Congenital muscular dystrophy POMT1 Ellen McDonagh commented on POMT1
Congenital muscular dystrophy POMGNT1 Ellen McDonagh marked POMGNT1 as ready
Congenital muscular dystrophy POMGNT1 Ellen McDonagh commented on POMGNT1
Congenital muscular dystrophy LARGE Ellen McDonagh marked LARGE as ready
Congenital muscular dystrophy LARGE Ellen McDonagh commented on LARGE
Congenital muscular dystrophy LAMA2 Ellen McDonagh marked LAMA2 as ready
Congenital muscular dystrophy LAMA2 Ellen McDonagh commented on LAMA2
Congenital muscular dystrophy ITGA7 Ellen McDonagh commented on ITGA7
Congenital muscular dystrophy ITGA7 Ellen McDonagh classified ITGA7 as amber
Congenital muscular dystrophy ISPD Ellen McDonagh marked ISPD as ready
Congenital muscular dystrophy ISPD Ellen McDonagh commented on ISPD
Congenital muscular dystrophy FKTN Ellen McDonagh edited their review of FKTN
Congenital muscular dystrophy FKTN Ellen McDonagh marked FKTN as ready
Congenital muscular dystrophy FKTN Ellen McDonagh commented on FKTN
Congenital muscular dystrophy FKRP Ellen McDonagh marked FKRP as ready
Congenital muscular dystrophy FKRP Ellen McDonagh commented on FKRP
Congenital muscular dystrophy DMD Ellen McDonagh marked DMD as ready
Congenital muscular dystrophy DMD Ellen McDonagh commented on DMD
Congenital muscular dystrophy COL6A3 Ellen McDonagh marked COL6A3 as ready
Congenital muscular dystrophy COL6A3 Ellen McDonagh commented on COL6A3
Congenital muscular dystrophy COL6A2 Ellen McDonagh marked COL6A2 as ready
Congenital muscular dystrophy COL6A2 Ellen McDonagh commented on COL6A2
Congenital muscular dystrophy COL6A1 Ellen McDonagh marked COL6A1 as ready
Congenital muscular dystrophy COL6A1 Ellen McDonagh commented on COL6A1
Congenital muscular dystrophy CHKB Ellen McDonagh marked CHKB as ready
Congenital muscular dystrophy CHKB Ellen McDonagh commented on CHKB
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as amber
Congenital muscular dystrophy RYR1 Ellen McDonagh marked RYR1 as ready
Congenital muscular dystrophy RYR1 Ellen McDonagh classified RYR1 as green
Congenital muscular dystrophy RYR1 Ellen McDonagh commented on RYR1
Congenital muscular dystrophy POMK Ellen McDonagh marked POMK as ready
Congenital muscular dystrophy POMK Ellen McDonagh classified POMK as green
Congenital muscular dystrophy POMK Ellen McDonagh commented on POMK
Congenital muscular dystrophy MICU1 Ellen McDonagh marked MICU1 as ready
Congenital muscular dystrophy MICU1 Ellen McDonagh classified MICU1 as green
Congenital muscular dystrophy MICU1 Ellen McDonagh commented on MICU1
Congenital muscular dystrophy GMPPB Ellen McDonagh marked GMPPB as ready
Congenital muscular dystrophy GMPPB Ellen McDonagh classified GMPPB as green
Congenital muscular dystrophy GMPPB Ellen McDonagh commented on GMPPB
Congenital muscular dystrophy DOLK Ellen McDonagh marked DOLK as ready
Congenital muscular dystrophy DOLK Ellen McDonagh classified DOLK as green
Congenital muscular dystrophy DOLK Ellen McDonagh commented on DOLK
Congenital muscular dystrophy DAG1 Ellen McDonagh marked DAG1 as ready
Congenital muscular dystrophy DAG1 Ellen McDonagh marked DAG1 as ready
Congenital muscular dystrophy DAG1 Ellen McDonagh classified DAG1 as green
Congenital muscular dystrophy DAG1 Ellen McDonagh commented on DAG1
Congenital muscular dystrophy DAG1 Ellen McDonagh classified DAG1 as green
Congenital muscular dystrophy COL12A1 Ellen McDonagh classified COL12A1 as green
Congenital muscular dystrophy COL12A1 Ellen McDonagh marked COL12A1 as ready
Congenital muscular dystrophy LMNA Ellen McDonagh marked LMNA as ready
Congenital muscular dystrophy ACTA1 Ellen McDonagh classified ACTA1 as amber
Congenital muscular dystrophy Ellen McDonagh approved panel
Congenital muscular dystrophy Ellen McDonagh rejected panel
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as green
Congenital muscular dystrophy B4GAT1 Ellen McDonagh commented on B4GAT1
Congenital muscular dystrophy TMEM5 Ellen McDonagh marked TMEM5 as ready
Congenital muscular dystrophy TMEM5 Ellen McDonagh classified TMEM5 as green
Congenital muscular dystrophy TMEM5 Ellen McDonagh commented on TMEM5
Congenital muscular dystrophy SYNE2 Ellen McDonagh marked SYNE2 as ready
Congenital muscular dystrophy SYNE2 Ellen McDonagh classified SYNE2 as red
Congenital muscular dystrophy SYNE2 Ellen McDonagh commented on SYNE2
Congenital muscular dystrophy SMCHD1 Ellen McDonagh marked SMCHD1 as ready
Congenital muscular dystrophy SMCHD1 Ellen McDonagh classified SMCHD1 as red
Congenital muscular dystrophy SMCHD1 Ellen McDonagh classified SMCHD1 as amber
Congenital muscular dystrophy SMCHD1 Ellen McDonagh commented on SMCHD1
Congenital muscular dystrophy POMGNT2 Ellen McDonagh marked POMGNT2 as ready
Congenital muscular dystrophy POMGNT2 Ellen McDonagh classified POMGNT2 as green
Congenital muscular dystrophy POMGNT2 Ellen McDonagh classified POMGNT2 as amber
Congenital muscular dystrophy POMGNT2 Ellen McDonagh commented on POMGNT2
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh marked B3GALNT2 as ready
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh classified B3GALNT2 as green
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh commented on B3GALNT2
Congenital muscular dystrophy ANO5 Ellen McDonagh marked ANO5 as ready
Congenital muscular dystrophy ANO5 Ellen McDonagh classified ANO5 as red
Congenital muscular dystrophy ANO5 Ellen McDonagh commented on ANO5
Congenital muscular dystrophy PABPN1 Ellen McDonagh marked PABPN1 as ready
Congenital muscular dystrophy PABPN1 Ellen McDonagh classified PABPN1 as red
Congenital muscular dystrophy PABPN1 Ellen McDonagh commented on PABPN1
Congenital muscular dystrophy EMD Ellen McDonagh classified EMD as amber
Congenital muscular dystrophy EMD Ellen McDonagh commented on EMD
Congenital muscular dystrophy ACTA1 Emma Clement commented on ACTA1
Congenital muscular dystrophy COL4A2 Emma Clement commented on COL4A2
Congenital muscular dystrophy COL4A1 Emma Clement commented on COL4A1
Congenital muscular dystrophy ACTA1 Emma Clement reviewed ACTA1
Congenital muscular dystrophy COL4A2 Emma Clement reviewed COL4A2
Congenital muscular dystrophy COL4A1 Emma Clement reviewed COL4A1
Congenital muscular dystrophy MICU1 Emma Clement reviewed MICU1
Congenital muscular dystrophy DOLK Emma Clement reviewed DOLK
Congenital muscular dystrophy COL12A1 Emma Clement reviewed COL12A1
Congenital muscular dystrophy TMEM43 Emma Clement reviewed TMEM43
Congenital muscular dystrophy TCAP Emma Clement reviewed TCAP
Congenital muscular dystrophy RYR1 Emma Clement reviewed RYR1
Congenital muscular dystrophy POMK Emma Clement reviewed POMK
Congenital muscular dystrophy PLEC Emma Clement reviewed PLEC
Congenital muscular dystrophy GMPPB Emma Clement reviewed GMPPB
Congenital muscular dystrophy DUX4 Emma Clement reviewed DUX4
Congenital muscular dystrophy DPM3 Emma Clement reviewed DPM3
Congenital muscular dystrophy DPM2 Emma Clement reviewed DPM2
Congenital muscular dystrophy DPM1 Emma Clement reviewed DPM1
Congenital muscular dystrophy B4GAT1 Emma Clement reviewed B4GAT1
Congenital muscular dystrophy TMEM5 Emma Clement reviewed TMEM5
Congenital muscular dystrophy SYNE2 Emma Clement reviewed SYNE2
Congenital muscular dystrophy SYNE1 Emma Clement reviewed SYNE1
Congenital muscular dystrophy SMCHD1 Emma Clement reviewed SMCHD1
Congenital muscular dystrophy POMGNT2 Emma Clement reviewed POMGNT2
Congenital muscular dystrophy DYSF Emma Clement reviewed DYSF
Congenital muscular dystrophy B3GALNT2 Emma Clement reviewed B3GALNT2
Congenital muscular dystrophy ANO5 Emma Clement reviewed ANO5
Congenital muscular dystrophy DAG1 Emma Clement reviewed DAG1
Congenital muscular dystrophy SEPN1 Emma Clement reviewed SEPN1
Congenital muscular dystrophy POMT2 Emma Clement reviewed POMT2
Congenital muscular dystrophy POMT1 Emma Clement reviewed POMT1
Congenital muscular dystrophy POMGNT1 Emma Clement reviewed POMGNT1
Congenital muscular dystrophy PABPN1 Emma Clement reviewed PABPN1
Congenital muscular dystrophy LMNA Emma Clement reviewed LMNA
Congenital muscular dystrophy LARGE Emma Clement reviewed LARGE
Congenital muscular dystrophy LAMA2 Emma Clement reviewed LAMA2
Congenital muscular dystrophy ITGA7 Emma Clement reviewed ITGA7
Congenital muscular dystrophy ISPD Emma Clement reviewed ISPD
Congenital muscular dystrophy FKTN Emma Clement reviewed FKTN
Congenital muscular dystrophy FKRP Emma Clement reviewed FKRP
Congenital muscular dystrophy EMD Emma Clement reviewed EMD
Congenital muscular dystrophy DMD Emma Clement reviewed DMD
Congenital muscular dystrophy COL6A3 Emma Clement reviewed COL6A3
Congenital muscular dystrophy COL6A2 Emma Clement reviewed COL6A2
Congenital muscular dystrophy COL6A1 Emma Clement reviewed COL6A1
Congenital muscular dystrophy CHKB Emma Clement reviewed CHKB
Congenital muscular dystrophy SEPN1 Louise Daugherty commented on SEPN1
Congenital muscular dystrophy LARGE Louise Daugherty commented on LARGE