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Possible mitochondrial disorder - nuclear genes

Gene: HCCS

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Linear skin defects with multiple congenital anomalies 1, 309801

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

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: HCCS was added gene: HCCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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, 309801