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Inborn errors of metabolism

Gene: HCFC1

Green List (high evidence)

HCFC1 (host cell factor C1)
EnsemblGeneIds (GRCh38): ENSG00000172534
EnsemblGeneIds (GRCh37): ENSG00000172534
OMIM: 300019, Gene2Phenotype
HCFC1 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported in at least 12 unrelated cases.
Created: 23 Jan 2017, 2:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
OMIM
300019
Clinvar variants
Variants in HCFC1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HCFC1 was added gene: HCFC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541