Pigmentary skin disorders
Gene: HCCSThe 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
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
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
Tag Q4_21_rating was removed from gene: HCCS. Tag Q4_21_NHS_review was removed from gene: HCCS.
Source Expert Review Green was added to HCCS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hccs has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: HCCS.
Tag Q4_21_rating was removed from gene: HCCS.
Tag Q4_21_rating tag was added to gene: HCCS. Tag Q4_21_NHS_review tag was added to gene: HCCS.
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
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