Anophthalmia or microphthalmia
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'other' to the option which captures X-linked dominant.Created: 3 Apr 2017, 4:25 p.m.
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expertCreated: 10 May 2016, 11:45 a.m.
Comment on mode of inheritance: X linked dominantCreated: 10 May 2016, 11:45 a.m.
David FitzPatrick (University of Edinburgh)
X linked dominantCreated: 8 Dec 2015, 1:30 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Variants in this GENE are reported as part of current diagnostic practice
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 Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microphthalmia, syndromic 7, 309801
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Ocular coloboma
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for HCCS was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()HCCS was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()HCCS was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen