Pigmentary skin disorders
Gene: COX7BThe 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: 22 Nov 2021, 11:53 a.m. | Last Modified: 22 Nov 2021, 11:53 a.m.
Panel Version: 1.20
XLD - lethal in males
Sources: OtherCreated: 21 Oct 2021, 4:05 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: COX7B. Tag Q4_21_NHS_review was removed from gene: COX7B.
Source Expert Review Green was added to COX7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cox7b has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: COX7B. Tag Q4_21_NHS_review tag was added to gene: COX7B.
Phenotypes for gene: COX7B were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 2, OMIM:300887
gene: COX7B was added gene: COX7B was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: COX7B 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: COX7B were set to 33670341 Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: COX7B were set to unknown Review for gene: COX7B was set to GREEN