Structural eye disease
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Wimplinger et al. 2006. reported three unrelated families, many more published sinceCreated: 19 Jun 2019, 3:32 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; Microphthalmia, syndromic 7, 309801
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Wimplinger et al. 2006. reported three unrelated families, many more published sinceCreated: 17 Apr 2019, 3:30 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; Microphthalmia, syndromic 7, 309801
Publications
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Microphthalmia, syndromic 7, 309801
- Linear skin defects with multiple congenital anomalies 1, 309801
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Ocular coloboma
- Structural eye disease
- Pigmentary skin disorders
- Likely inborn error of metabolism
- Mitochondrial disorders
- DDG2P
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HCCS. Added phenotypes Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS Publications for gene HCCS were changed from 17033964, 24859618 to 24859618; 17033964
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HCCS was added gene: HCCS was added to Structural eye disease. 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) Publications for gene: HCCS were set to 17033964, 24859618 Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801; Microphthalmia, syndromic 7, 309801