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Newborns main panel

Gene: HCFC1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1 - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team.
Created: 10 Mar 2023, 11:21 a.m. | Last Modified: 10 Mar 2023, 11:21 a.m.
Panel Version: 0.42

Phenotypes
Methylmalonic aciduria and homocysteinemia, cblX type

Created: 10 Mar 2023, 11:21 a.m.
Last Modified: 10 Mar 2023, 11:21 a.m.
Panel version: 0.137

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
OMIM
300019
Clinvar variants
Variants in HCFC1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HCFC1. Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type for gene: HCFC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HCFC1. Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type for gene: HCFC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HCFC1. Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type for gene: HCFC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HCFC1. Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type for gene: HCFC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Methylmalonic aciduria and homocysteinemia, cblX type for gene: HCFC1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HCFC1 was added gene: HCFC1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females