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Glycogen storage disease v2.4 | G6PC | Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia 232200 to Glycogen storage disease Ia, OMIM:232200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.11 | G6PC | Achchuthan Shanmugasundram Publications for gene: G6PC were set to 20301489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.10 | RBCK1 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: RBCK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.10 | RBCK1 | Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.9 | RBCK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBCK1. Source NHS GMS was added to RBCK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Glycogen storage disease v1.8 | SLC37A4 | Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ic 232240; Glycogen storage disease Ib 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.7 | PYGM | Sarah Leigh Tag for-review was removed from gene: PYGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.7 | PYGM | Sarah Leigh edited their review of gene: PYGM: Added comment: After NHSÂ Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.7 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.6 | RBCK1 | Sarah Leigh Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.5 | RBCK1 | Sarah Leigh edited their review of gene: RBCK1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.5 | RBCK1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: RBCK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.5 | RBCK1 | Sarah Leigh Classified gene: RBCK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.5 | RBCK1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.5 | RBCK1 | Sarah Leigh Gene: rbck1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.4 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.4 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.4 | RBCK1 |
Zornitza Stark gene: RBCK1 was added gene: RBCK1 was added to Glycogen storage disease. Sources: Expert list Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23798481; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Review for gene: RBCK1 was set to GREEN gene: RBCK1 was marked as current diagnostic Added comment: Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported. Sources: Expert list |
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Glycogen storage disease v1.4 | PYGM |
Sarah Leigh Tag watchlist tag was added to gene: PYGM. Tag for-review tag was added to gene: PYGM. |
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Glycogen storage disease v1.4 | PYGM | Sarah Leigh commented on gene: PYGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.4 | PYGM | Sarah Leigh Publications for gene: PYGM were set to 20301518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.3 | PYGM | Zornitza Stark reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32386344; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.5 |
Sarah Leigh List of related panels changed from to R274 Panel types changed to GMS Rare Disease; GMS signed-off |
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Glycogen storage disease v0.3 | PYGM | Emma Ashton reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PYGL | Emma Ashton reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKG2 | Emma Ashton reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKB | Emma Ashton reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKA2 | Emma Ashton reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKA1 | Emma Ashton reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PGAM2 | Emma Ashton reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PFKM | Emma Ashton reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | LDHA | Emma Ashton reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | LAMP2 | Emma Ashton reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GYS2 | Emma Ashton reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GYS1 | Emma Ashton reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GBE1 | Emma Ashton reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GAA | Emma Ashton reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | G6PC | Emma Ashton reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | ENO3 | Emma Ashton reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | ALDOA | Emma Ashton reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | AGL | Emma Ashton reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | ALDOB | Carol Hardy reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: ; Publications: 26677512; Phenotypes: Fructose intolerance, hereditary 229600 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | SLC37A4 | Carol Hardy reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301489; Phenotypes: Glycogen storage disease Ib 232220, Glycogen storage disease Ic 232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | SLC2A2 | Carol Hardy reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi-Bickel syndrome 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PYGM | Carol Hardy reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301518; Phenotypes: Glycogen storage disease V 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PYGL | Carol Hardy reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301760; Phenotypes: Glycogen storage disease VI 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PRKAG2 | Carol Hardy reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease of heart, lethal congenital 261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKG2 | Carol Hardy reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease IXc 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKB | Carol Hardy reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKA2 | Carol Hardy reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease, type IXa1 306000, Glycogen storage disease, type IXa2 306000 ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PHKA1 | Carol Hardy reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Muscle glycogenosis 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PGM1 | Carol Hardy reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PGK1 | Carol Hardy reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PGAM2 | Carol Hardy reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease X 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | PFKM | Carol Hardy reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease VII 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | NHLRC1 | Carol Hardy reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | LDHA | Carol Hardy reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XI 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | LAMP2 | Carol Hardy reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Danon disease 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GYS2 | Carol Hardy reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease 0, liver 240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GYS1 | Carol Hardy reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease 0, muscle 611556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GYG1 | Carol Hardy reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XV 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GBE1 | Carol Hardy reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23285490; Phenotypes: Glycogen storage disease IV 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | GAA | Carol Hardy reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301438; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | G6PC | Carol Hardy reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301489; Phenotypes: Glycogen storage disease Ia 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | FBP1 | Carol Hardy reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | EPM2A | Carol Hardy reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | ENO3 | Carol Hardy reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XIII 612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | ALDOA | Carol Hardy reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XII 611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.3 | AGL | Carol Hardy reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301788; Phenotypes: Glycogen storage disease IIIa, 232400, Glycogen storage disease IIIb, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.2 | ALDOB |
Ivone Leong gene: ALDOB was added gene: ALDOB was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 26677512 Phenotypes for gene: ALDOB were set to Fructose intolerance, hereditary 229600 |
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Glycogen storage disease v0.2 | SLC37A4 |
Ivone Leong gene: SLC37A4 was added gene: SLC37A4 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 20301489 Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic 232240; Glycogen storage disease Ib 232220 |
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Glycogen storage disease v0.2 | SLC2A2 |
Ivone Leong gene: SLC2A2 was added gene: SLC2A2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome 227810 |
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Glycogen storage disease v0.2 | PYGM |
Ivone Leong gene: PYGM was added gene: PYGM was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 20301518 Phenotypes for gene: PYGM were set to Glycogen storage disease V 232600 |
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Glycogen storage disease v0.2 | PYGL |
Ivone Leong gene: PYGL was added gene: PYGL was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 20301760 Phenotypes for gene: PYGL were set to Glycogen storage disease VI 232700 |
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Glycogen storage disease v0.2 | PRKAG2 |
Ivone Leong gene: PRKAG2 was added gene: PRKAG2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital 261740 |
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Glycogen storage disease v0.2 | PHKG2 |
Ivone Leong gene: PHKG2 was added gene: PHKG2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 21634085 Phenotypes for gene: PHKG2 were set to Glycogen storage disease IXc 613027 |
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Glycogen storage disease v0.2 | PHKB |
Ivone Leong gene: PHKB was added gene: PHKB was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKB were set to 21634085 Phenotypes for gene: PHKB were set to Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 |
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Glycogen storage disease v0.2 | PHKA2 |
Ivone Leong gene: PHKA2 was added gene: PHKA2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to 21634085 Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa2 306000; Glycogen storage disease, type IXa1 306000 |
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Glycogen storage disease v0.2 | PHKA1 |
Ivone Leong gene: PHKA1 was added gene: PHKA1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 21634085 Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559 |
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Glycogen storage disease v0.2 | PGM1 |
Ivone Leong gene: PGM1 was added gene: PGM1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921 |
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Glycogen storage disease v0.2 | PGK1 |
Ivone Leong gene: PGK1 was added gene: PGK1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653 |
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Glycogen storage disease v0.2 | PGAM2 |
Ivone Leong gene: PGAM2 was added gene: PGAM2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670 |
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Glycogen storage disease v0.2 | PFKM |
Ivone Leong gene: PFKM was added gene: PFKM was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800 |
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Glycogen storage disease v0.2 | NHLRC1 |
Ivone Leong gene: NHLRC1 was added gene: NHLRC1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780 |
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Glycogen storage disease v0.2 | LDHA |
Ivone Leong gene: LDHA was added gene: LDHA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933 |
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Glycogen storage disease v0.2 | LAMP2 |
Ivone Leong gene: LAMP2 was added gene: LAMP2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: LAMP2 were set to Danon disease 300257 |
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Glycogen storage disease v0.2 | GYS2 |
Ivone Leong gene: GYS2 was added gene: GYS2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver 240600 |
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Glycogen storage disease v0.2 | GYS1 |
Ivone Leong gene: GYS1 was added gene: GYS1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556 |
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Glycogen storage disease v0.2 | GYG1 |
Ivone Leong gene: GYG1 was added gene: GYG1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to Glycogen storage disease XV 613507 |
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Glycogen storage disease v0.2 | GBE1 |
Ivone Leong gene: GBE1 was added gene: GBE1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 23285490 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500 |
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Glycogen storage disease v0.2 | GAA |
Ivone Leong gene: GAA was added gene: GAA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 20301438 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300 |
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Glycogen storage disease v0.2 | G6PC |
Ivone Leong gene: G6PC was added gene: G6PC was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 20301489 Phenotypes for gene: G6PC were set to Glycogen storage disease Ia 232200 |
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Glycogen storage disease v0.2 | FBP1 |
Ivone Leong gene: FBP1 was added gene: FBP1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency 229700 |
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Glycogen storage disease v0.2 | EPM2A |
Ivone Leong gene: EPM2A was added gene: EPM2A was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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Glycogen storage disease v0.2 | ENO3 |
Ivone Leong gene: ENO3 was added gene: ENO3 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENO3 were set to Glycogen storage disease XIII 612932 |
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Glycogen storage disease v0.2 | ALDOA |
Ivone Leong gene: ALDOA was added gene: ALDOA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881 |
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Glycogen storage disease v0.2 | AGL |
Ivone Leong gene: AGL was added gene: AGL was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 20301788 Phenotypes for gene: AGL were set to Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIa, 232400 |
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Glycogen storage disease v0.0 |
Ellen McDonagh Added Panel Glycogen storage disease Set panel types to: GMS Rare Disease |