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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)
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 NHS 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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Glycogen storage disease v0.0 Ellen McDonagh Added Panel Glycogen storage disease
Set panel types to: GMS Rare Disease