Early onset or syndromic epilepsy
Gene: HCFC1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
XLR mental retardation 3 (methylmalonic acidemia and homocystinemia cbIX type) - characterised by severely delayed psychomotor development apparent in infancy - it is associated with failure to thrive, mental retardation and intractable epilepsy. Yu et al, 2013 - 14 unrelated makes with severe delayed psychomotor development and intractable epilepsy - 5 diff hemizygous missense variants - 9 have the A115V variant and all variants are at highly conserved residues in 2 of the 5 N-terminal Kelch domains, some functional work done.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Publications
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 or its regulatory site and also have epilepsy.Created: 14 Nov 2018, 2:12 p.m.
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.Created: 14 Nov 2018, 2:11 p.m.
Seizures are part of the phenotype.Created: 15 Aug 2018, 12:45 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), MIM#309541
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to HCFC1.
Source NHS GMS was added to HCFC1.
Zornitza Stark: Seizures are part of the pheno
Publications for gene: HCFC1 were set to 24011988; 23000143; 25740848
Gene: hcfc1 has been classified as Green List (High Evidence).
Gene: hcfc1 has been classified as Green List (High Evidence).
Publications for gene: HCFC1 were set to
Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
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
Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Expert Review Amber was added to HCFC1. Panel: Genetic Epilepsy Syndromes
HCFC1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
HCFC1 was created by Sarah Leigh