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Inborn errors of metabolism

Gene: HCCS

Green List (high evidence)

HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked dominant in G2P and OMIM. Biallelic mutations in females will be picked up too.
Created: 2 Mar 2016, 12:29 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for microphthalmia syndromic type 7.
Created: 2 Mar 2016, 12:28 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Microphthalmia, syndromic 7, 309801
OMIM
300056
Clinvar variants
Variants in HCCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HCCS. Source London North GLH was added to HCCS.

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

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS Publications for gene HCCS were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HCCS was added gene: HCCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801