Pigmentary skin disorders
Gene: COX7BEnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 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: 22 Nov 2021, 11:53 a.m. | Last Modified: 22 Nov 2021, 11:53 a.m.
Panel Version: 1.20
Tom Cullup (Great Ormond Street Hospital)
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
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 2, OMIM:300887
- OMIM
- 300885
- Clinvar variants
- Variants in COX7B
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: COX7B. Tag Q4_21_NHS_review was removed from gene: COX7B.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to COX7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cox7b has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: COX7B. Tag Q4_21_NHS_review tag was added to gene: COX7B.
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)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