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  3. HCFC1
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Vitamin metabolism disorders

Gene: HCFC1

Green List (high evidence)
HCFC1 (host cell factor C1)
EnsemblGeneIds (GRCh38): ENSG00000172534
EnsemblGeneIds (GRCh37): ENSG00000172534
OMIM: 300019, Gene2Phenotype
HCFC1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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

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

Created: 5 Feb 2021, 1:50 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.182

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657
  • disorder of cobalamin metabolism
OMIM
300019
Clinvar variants
Variants in HCFC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hcfc1 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hcfc1 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HCFC1 was added gene: HCFC1 was added to Inherited vitamin B12 or cobalamin deficiency. 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 24011988 Phenotypes for gene: HCFC1 were set to methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657; disorder of cobalamin metabolism Review for gene: HCFC1 was set to GREEN gene: HCFC1 was marked as current diagnostic