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Cataracts

Gene: HCCS

Red List (low evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

The main clinical characteristics are uni- or bilateral microphthalmia and linear aplastic skin lesions of the face and neck. Additional features such as sclerocornea, corneal opacities, congenital heart defects, microcephaly, intellectual disability and agenesis of the corpus callosum have been observed less frequently. In utero lethality in males. Majority of patients have segmental monosomy of Xp22.2.
Created: 2 Jun 2016, 1:20 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, 309801

Publications

  • van Rahden et al (2014) Orphanet J Rare Dis 9:53
  • Wimplinger et al (2006) Am J Hum Genet 79:878.

Ellen McDonagh (Genomics England Curator)

I don't know

Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7 (includes cataract as a phenotype).
Created: 29 Apr 2016, 12:05 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
Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7; Linear skin defects with multiple congenital anomalies 1

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
  • Expert Review Red
  • UKGTN
Phenotypes
  • Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7
  • Linear skin defects with multiple congenital anomalies 1, 309801
OMIM
300056
Clinvar variants
Variants in HCCS
Penetrance
Complete
Publications
  • van Rahden et al (2014) Orphanet J Rare Dis 9:53
  • Wimplinger et al (2006) Am J Hum Genet 79:878.
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HCCS were set to Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7; Linear skin defects with multiple congenital anomalies 1, 309801

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HCCS were set to van Rahden et al (2014) Orphanet J Rare Dis 9:53; Wimplinger et al (2006) Am J Hum Genet 79:878.

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HCCS was added to Cataractspanel. Sources: UKGTN