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Severe Paediatric Disorders v0.17 CHMP2B Louise Daugherty Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHMP1A Louise Daugherty Mode of inheritance for gene CHMP1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHM Louise Daugherty Mode of inheritance for gene CHM 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 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHM Louise Daugherty reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CHMP2B Louise Daugherty Publications for gene CHMP2B were updated from to 30847515
Severe Paediatric Disorders v0.11 CHMP1A Louise Daugherty Publications for gene CHMP1A were updated from to 30847515
Severe Paediatric Disorders v0.11 CHM Louise Daugherty Publications for gene CHM were updated from to 30847515
Severe Paediatric Disorders v0.10 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.10 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.10 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.10 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.10 CHM Louise Daugherty Added phenotypes Choroideremia, 303100 for gene: CHM
Severe Paediatric Disorders v0.9 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.9 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.9 CHM Louise Daugherty Added phenotypes Choroideremia, 303100 for gene: CHM
Severe Paediatric Disorders v0.9 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.9 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.9 CHM Louise Daugherty Added phenotypes Choroideremia, 303100 for gene: CHM
Severe Paediatric Disorders v0.8 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.8 COL10A1 Louise Daugherty Added phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 for gene: COL10A1
Severe Paediatric Disorders v0.8 CHMP2B Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 17, 614696; Dementia, familial, nonspecific, 600795 for gene: CHMP2B
Severe Paediatric Disorders v0.8 CHMP1A Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 8, 614961 for gene: CHMP1A
Severe Paediatric Disorders v0.8 CHM Louise Daugherty Added phenotypes Choroideremia, 303100 for gene: CHM
Severe Paediatric Disorders v0.8 SBDS Louise Daugherty Mode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Severe Paediatric Disorders v0.7 CHMP2B Louise Daugherty Source Next Generation Children Project was added to CHMP2B.
Severe Paediatric Disorders v0.7 CHMP1A Louise Daugherty Source Next Generation Children Project was added to CHMP1A.
Severe Paediatric Disorders v0.7 CHM Louise Daugherty Source Next Generation Children Project was added to CHM.
Severe Paediatric Disorders v0.5 CHMP2B Louise Daugherty Source Expert Review Green was added to CHMP2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHMP1A Louise Daugherty Source Expert Review Green was added to CHMP1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHM Louise Daugherty Source Expert Review Green was added to CHM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CHMP2B Louise Daugherty gene: CHMP2B was added
gene: CHMP2B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHMP2B was set to
Severe Paediatric Disorders v0.4 CHMP1A Louise Daugherty gene: CHMP1A was added
gene: CHMP1A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHMP1A was set to
Severe Paediatric Disorders v0.4 CHM Louise Daugherty gene: CHM was added
gene: CHM was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHM was set to