Mosaic skin disorders - deep sequencing
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Expression mosaicism, rather than genomic mosaicism, therefore not appropriate for panel. Important to ensure testing available for these conditions via an alterative pathway.Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: HCCS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
- Tags
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Ocular coloboma
- 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
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HCCS.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Removed was added to HCCS. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to HCCS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HCCS was added gene: HCCS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HCCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HCCS were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)