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Severe Paediatric Disorders v0.12 PNPLA8 Louise Daugherty reviewed gene: PNPLA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PNPT1 Louise Daugherty reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PNPO Louise Daugherty reviewed gene: PNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PNP Louise Daugherty reviewed gene: PNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PNPLA8 Louise Daugherty Publications for gene PNPLA8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPT1 Louise Daugherty Publications for gene PNPT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPO Louise Daugherty Publications for gene PNPO were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Publications for gene PNPLA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNP Louise Daugherty Publications for gene PNP were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPT1 Louise Daugherty Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNPO Louise Daugherty Mode of inheritance for gene PNPO was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PNP Louise Daugherty Mode of inheritance for gene PNP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.10 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.10 PNPO Louise Daugherty Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 for gene: PNPO
Severe Paediatric Disorders v0.10 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.10 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.9 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PNPO Louise Daugherty Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 for gene: PNPO
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.9 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PNPO Louise Daugherty Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 for gene: PNPO
Severe Paediatric Disorders v0.9 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Severe Paediatric Disorders v0.9 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.8 PNPLA8 Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.8 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.8 PNPO Louise Daugherty Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 for gene: PNPO
Severe Paediatric Disorders v0.8 PNPLA6 Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Oliver-McFarlane syndrome, 275400; Boucher-Neuhauser syndrome, 215470 for gene: PNPLA6
Severe Paediatric Disorders v0.8 PNP Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
Severe Paediatric Disorders v0.8 PNPLA8 Louise Daugherty Mode of inheritance for gene PNPLA8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
Severe Paediatric Disorders v0.7 PNPLA8 Louise Daugherty Source Next Generation Children Project was added to PNPLA8.
Severe Paediatric Disorders v0.7 PNPT1 Louise Daugherty Source Next Generation Children Project was added to PNPT1.
Severe Paediatric Disorders v0.7 PNPO Louise Daugherty Source Next Generation Children Project was added to PNPO.
Severe Paediatric Disorders v0.7 PNPLA6 Louise Daugherty Source Next Generation Children Project was added to PNPLA6.
Severe Paediatric Disorders v0.7 PNP Louise Daugherty Source Next Generation Children Project was added to PNP.
Severe Paediatric Disorders v0.5 PNPLA8 Louise Daugherty Source Expert Review Amber was added to PNPLA8.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 PNPT1 Louise Daugherty Source Expert Review Green was added to PNPT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PNPO Louise Daugherty Source Expert Review Green was added to PNPO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PNPLA6 Louise Daugherty Source Expert Review Green was added to PNPLA6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PNP Louise Daugherty Source Expert Review Green was added to PNP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PNPLA8 Louise Daugherty gene: PNPLA8 was added
gene: PNPLA8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNPLA8 was set to
Severe Paediatric Disorders v0.4 PNPT1 Louise Daugherty gene: PNPT1 was added
gene: PNPT1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNPT1 was set to
Severe Paediatric Disorders v0.4 PNPO Louise Daugherty gene: PNPO was added
gene: PNPO was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNPO was set to
Severe Paediatric Disorders v0.4 PNPLA6 Louise Daugherty gene: PNPLA6 was added
gene: PNPLA6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to
Severe Paediatric Disorders v0.4 PNP Louise Daugherty gene: PNP was added
gene: PNP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PNP was set to