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Severe Paediatric Disorders v0.17 HCFC1 Louise Daugherty Mode of inheritance for gene HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CFC1 Louise Daugherty Mode of inheritance for gene CFC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 HCFC1 Louise Daugherty reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFC1 Louise Daugherty reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HCFC1 Louise Daugherty Publications for gene HCFC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFC1 Louise Daugherty Publications for gene CFC1 were updated from to 30847515
Severe Paediatric Disorders v0.10 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.10 CFC1 Louise Daugherty Added phenotypes Heterotaxy, visceral, 2, autosomal, 605376 for gene: CFC1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 CFC1 Louise Daugherty Added phenotypes Heterotaxy, visceral, 2, autosomal, 605376 for gene: CFC1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 CFC1 Louise Daugherty Added phenotypes Heterotaxy, visceral, 2, autosomal, 605376 for gene: CFC1
Severe Paediatric Disorders v0.8 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.8 CFC1 Louise Daugherty Added phenotypes Heterotaxy, visceral, 2, autosomal, 605376 for gene: CFC1
Severe Paediatric Disorders v0.7 HCFC1 Louise Daugherty Source Next Generation Children Project was added to HCFC1.
Severe Paediatric Disorders v0.7 CFC1 Louise Daugherty Source Next Generation Children Project was added to CFC1.
Severe Paediatric Disorders v0.5 HCFC1 Louise Daugherty Source Expert Review Green was added to HCFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CFC1 Louise Daugherty Source Expert Review Green was added to CFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HCFC1 Louise Daugherty gene: HCFC1 was added
gene: HCFC1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HCFC1 was set to
Severe Paediatric Disorders v0.4 CFC1 Louise Daugherty gene: CFC1 was added
gene: CFC1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFC1 was set to