Cerebral Palsy
Gene: HCFC1EnsemblGeneIds (GRCh38): ENSG00000172534
EnsemblGeneIds (GRCh37): ENSG00000172534
OMIM: 300019, Gene2Phenotype
HCFC1 is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
2 males reported with hemizygous LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MAHCX is characterized by severely delayed psychomotor development apparent in infancy.
Sources: LiteratureCreated: 25 Jun 2024, 7:22 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
- OMIM
- 300019
- Clinvar variants
- Variants in HCFC1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hcfc1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hcfc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: HCFC1 was added gene: HCFC1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to PMID: 38693247 Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Review for gene: HCFC1 was set to AMBER