Pigmentary skin disorders
Gene: HCCSEnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 25 Nov 2021, 4:23 p.m. | Last Modified: 25 Nov 2021, 4:23 p.m.
Panel Version: 1.24
Tom Cullup (Great Ormond Street Hospital)
XLD - lethal in males
Sources: OtherCreated: 21 Oct 2021, 4:04 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
Publications
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
- Phenotypes
-
- Linear skin defects with multiple congenital anomalies 1, OMIM:309801
- OMIM
- 300056
- Clinvar variants
- Variants in HCCS
- Penetrance
- unknown
- Publications
- 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
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: HCCS. Tag Q4_21_NHS_review was removed from gene: HCCS.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to HCCS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hccs has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: HCCS.
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating was removed from gene: HCCS.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: HCCS. Tag Q4_21_NHS_review tag was added to gene: HCCS.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HCCS were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 1, OMIM:309801
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: HCCS was added gene: HCCS was added to Pigmentary skin disorders. Sources: Other 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 33670341 Phenotypes for gene: HCCS were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: HCCS were set to unknown Review for gene: HCCS was set to GREEN