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Early onset or syndromic epilepsy v1.191 HCFC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HCFC1.
Early onset or syndromic epilepsy v1.190 HCFC1 Rebecca Foulger Source NHS GMS was added to HCFC1.
Early onset or syndromic epilepsy v1.189 HCFC1 Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HCFC1 Tracy Lester reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24011988, 26893841; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1060 HCFC1 Ivone Leong Publications for gene: HCFC1 were set to 24011988; 23000143; 25740848
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Marked gene: HCFC1 as ready
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment when marking as ready: Mental retardation, X-linked 3 is associated with HCFC1 and is confirmed in both OMIM and Gene2Phenotype. >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Classified gene: HCFC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.857 HCFC1 Ivone Leong Publications for gene: HCFC1 were set to
Early onset or syndromic epilepsy v0.849 HCFC1 Ivone Leong Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.848 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Early onset or syndromic epilepsy v0.847 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Early onset or syndromic epilepsy v0.846 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Early onset or syndromic epilepsy HCFC1 Zornitza Stark reviewed gene: HCFC1
Early onset or syndromic epilepsy HCFC1 Sarah Leigh Added gene to panel