Genetic Epilepsy

Gene: HCFC1

Green List (high evidence)

Well-established gene-disease association with >20 individuals reported

Variants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability.
Seizures being a prominent feature in this phenotype.

Created: 28 Sep 2021, 5:46 a.m. | Last Modified: 28 Sep 2021, 5:48 a.m.

Panel Version: 0.1239

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

• 34164576
• 24011988

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Methylmalonic acidemia and homocysteinemia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of cobalamin metabolism.
Sources: NHS GMS

Created: 5 Feb 2021, 1:50 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; disorder of cobalamin metabolism

Publications

• 24011988

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Obligate carrier females were normal and had high skewing of X inactivation

Created: 20 Mar 2020, 2:06 a.m. | Last Modified: 20 Mar 2020, 2:06 a.m.

Panel Version: 0.1772

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

• PMID: 23000143