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Severe Paediatric Disorders v1.173 C9orf72 Dmitrijs Rots reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v0.17 C9orf72 Louise Daugherty Mode of inheritance for gene C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 C9 Louise Daugherty Mode of inheritance for gene C9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARMC9 Louise Daugherty Mode of inheritance for gene ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ABCC9 Louise Daugherty Mode of inheritance for gene ABCC9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ZDHHC9 Louise Daugherty reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 UNC93B1 Louise Daugherty reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TRAPPC9 Louise Daugherty reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C9 Louise Daugherty reviewed gene: C9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARMC9 Louise Daugherty reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC9 Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ZDHHC9 Louise Daugherty Publications for gene ZDHHC9 were updated from to 30847515
Severe Paediatric Disorders v0.11 UNC93B1 Louise Daugherty Publications for gene UNC93B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAPPC9 Louise Daugherty Publications for gene TRAPPC9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC9A6 Louise Daugherty Publications for gene SLC9A6 were updated from to 30847515
Severe Paediatric Disorders v0.11 C9orf72 Louise Daugherty Publications for gene C9orf72 were updated from to 30847515
Severe Paediatric Disorders v0.11 C9 Louise Daugherty Publications for gene C9 were updated from to 30847515
Severe Paediatric Disorders v0.11 ARMC9 Louise Daugherty Publications for gene ARMC9 were updated from to 30847515
Severe Paediatric Disorders v0.11 ABCC9 Louise Daugherty Publications for gene ABCC9 were updated from to 30847515
Severe Paediatric Disorders v0.10 ZDHHC9 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.10 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.10 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.10 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.10 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.10 C9 Louise Daugherty Added phenotypes C9 deficiency, 613825 for gene: C9
Severe Paediatric Disorders v0.10 ARMC9 Louise Daugherty Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Severe Paediatric Disorders v0.10 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ZDHHC9 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.9 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.9 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C9 Louise Daugherty Added phenotypes C9 deficiency, 613825 for gene: C9
Severe Paediatric Disorders v0.9 ARMC9 Louise Daugherty Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ZDHHC9 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.9 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.9 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C9 Louise Daugherty Added phenotypes C9 deficiency, 613825 for gene: C9
Severe Paediatric Disorders v0.9 ARMC9 Louise Daugherty Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.8 ZDHHC9 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.8 UNC93B1 Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.8 TRAPPC9 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.8 C9 Louise Daugherty Added phenotypes C9 deficiency, 613825 for gene: C9
Severe Paediatric Disorders v0.8 ARMC9 Louise Daugherty Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9
Severe Paediatric Disorders v0.8 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.8 ZDHHC9 Louise Daugherty Mode of inheritance for gene ZDHHC9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
Severe Paediatric Disorders v0.8 UNC93B1 Louise Daugherty Mode of inheritance for gene UNC93B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
Severe Paediatric Disorders v0.8 TRAPPC9 Louise Daugherty Mode of inheritance for gene TRAPPC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Mode of inheritance for gene SLC9A6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.7 ZDHHC9 Louise Daugherty Source Next Generation Children Project was added to ZDHHC9.
Severe Paediatric Disorders v0.7 UNC93B1 Louise Daugherty Source Next Generation Children Project was added to UNC93B1.
Severe Paediatric Disorders v0.7 TRAPPC9 Louise Daugherty Source Next Generation Children Project was added to TRAPPC9.
Severe Paediatric Disorders v0.7 SLC9A6 Louise Daugherty Source Next Generation Children Project was added to SLC9A6.
Severe Paediatric Disorders v0.7 C9orf72 Louise Daugherty Source Next Generation Children Project was added to C9orf72.
Severe Paediatric Disorders v0.7 C9 Louise Daugherty Source Next Generation Children Project was added to C9.
Severe Paediatric Disorders v0.7 ARMC9 Louise Daugherty Source Next Generation Children Project was added to ARMC9.
Severe Paediatric Disorders v0.7 ABCC9 Louise Daugherty Source Next Generation Children Project was added to ABCC9.
Severe Paediatric Disorders v0.5 ZDHHC9 Louise Daugherty Source Expert Review Green was added to ZDHHC9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 UNC93B1 Louise Daugherty Source Expert Review Green was added to UNC93B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TRAPPC9 Louise Daugherty Source Expert Review Green was added to TRAPPC9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SLC9A6 Louise Daugherty Source Expert Review Green was added to SLC9A6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C9orf72 Louise Daugherty Source Expert Review Green was added to C9orf72.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C9 Louise Daugherty Source Expert Review Green was added to C9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ARMC9 Louise Daugherty Source Expert Review Green was added to ARMC9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ABCC9 Louise Daugherty Source Expert Review Green was added to ABCC9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ZDHHC9 Louise Daugherty gene: ZDHHC9 was added
gene: ZDHHC9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ZDHHC9 was set to
Severe Paediatric Disorders v0.4 UNC93B1 Louise Daugherty gene: UNC93B1 was added
gene: UNC93B1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UNC93B1 was set to
Severe Paediatric Disorders v0.4 TRAPPC9 Louise Daugherty gene: TRAPPC9 was added
gene: TRAPPC9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRAPPC9 was set to
Severe Paediatric Disorders v0.4 SLC9A6 Louise Daugherty gene: SLC9A6 was added
gene: SLC9A6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SLC9A6 was set to
Severe Paediatric Disorders v0.4 C9orf72 Louise Daugherty gene: C9orf72 was added
gene: C9orf72 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C9orf72 was set to
Severe Paediatric Disorders v0.4 C9 Louise Daugherty gene: C9 was added
gene: C9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C9 was set to
Severe Paediatric Disorders v0.4 ARMC9 Louise Daugherty gene: ARMC9 was added
gene: ARMC9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to
Severe Paediatric Disorders v0.4 ABCC9 Louise Daugherty gene: ABCC9 was added
gene: ABCC9 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ABCC9 was set to