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  2. TEST Undiagnosed metabolic disorders
  3. HCFC1
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TEST Undiagnosed metabolic disorders

Gene: HCFC1

Green List (high evidence)
HCFC1 (host cell factor C1)
EnsemblGeneIds (GRCh38): ENSG00000172534
EnsemblGeneIds (GRCh37): ENSG00000172534
OMIM: 300019, Gene2Phenotype
HCFC1 is in 8 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
OMIM
300019
Clinvar variants
Variants in HCFC1
Penetrance
None
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: HCFC1 was added gene: HCFC1 was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females