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Severe Paediatric Disorders v0.17 EDARADD Louise Daugherty Mode of inheritance for gene EDARADD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EDAR Louise Daugherty Mode of inheritance for gene EDAR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EDA Louise Daugherty Mode of inheritance for gene EDA 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)
Severe Paediatric Disorders v0.12 EDARADD Louise Daugherty reviewed gene: EDARADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDAR Louise Daugherty reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDA Louise Daugherty reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 EDARADD Louise Daugherty Publications for gene EDARADD were updated from to 30847515
Severe Paediatric Disorders v0.11 EDAR Louise Daugherty Publications for gene EDAR were updated from to 30847515
Severe Paediatric Disorders v0.11 EDA Louise Daugherty Publications for gene EDA were updated from to 30847515
Severe Paediatric Disorders v0.10 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.10 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.10 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.10 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.10 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.9 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.9 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.9 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Severe Paediatric Disorders v0.9 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.9 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.9 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 for gene: EDAR
Severe Paediatric Disorders v0.9 EDA Louise Daugherty Added phenotypes Tooth agenesis, selective, X-linked 1, 313500; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 for gene: EDA
Severe Paediatric Disorders v0.9 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.8 EDARADD Louise Daugherty Added phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 for gene: EDARADD
Severe Paediatric Disorders v0.8 EDAR Louise Daugherty Added phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 for gene: EDAR
Severe Paediatric Disorders v0.8 EDA Louise Daugherty Added phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100; Tooth agenesis, selective, X-linked 1, 313500 for gene: EDA
Severe Paediatric Disorders v0.8 CA8 Louise Daugherty Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Severe Paediatric Disorders v0.8 VLDLR Louise Daugherty Mode of inheritance for gene VLDLR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
Severe Paediatric Disorders v0.7 EDARADD Louise Daugherty Source Next Generation Children Project was added to EDARADD.
Severe Paediatric Disorders v0.7 EDAR Louise Daugherty Source Next Generation Children Project was added to EDAR.
Severe Paediatric Disorders v0.7 EDA Louise Daugherty Source Next Generation Children Project was added to EDA.
Severe Paediatric Disorders v0.5 EDARADD Louise Daugherty Source Expert Review Green was added to EDARADD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EDAR Louise Daugherty Source Expert Review Green was added to EDAR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EDA Louise Daugherty Source Expert Review Green was added to EDA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 EDARADD Louise Daugherty gene: EDARADD was added
gene: EDARADD was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EDARADD was set to
Severe Paediatric Disorders v0.4 EDAR Louise Daugherty gene: EDAR was added
gene: EDAR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EDAR was set to
Severe Paediatric Disorders v0.4 EDA Louise Daugherty gene: EDA was added
gene: EDA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EDA was set to