Mitochondrial disorders
Gene: HCCSEnsemblGeneIds (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)
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Microphthalmia, syndromic 7, 309801
- Linear skin defects with multiple congenital anomalies 1
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Ocular coloboma
- Intellectual disability
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to HCCS. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HCCS were set to Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HCCS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HCCS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen