Pigmentary skin disorders

Gene: COX7B

Green List (high evidence)

COX7B (cytochrome c oxidase subunit 7B)
EnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 15 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)

Green List (high evidence)

XLD - lethal in males
Sources: Other
Created: 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

History Filter Activity

9 Mar 2022, Gel status: 3

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.

9 Mar 2022, Gel status: 3

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)

22 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cox7b has been classified as Amber List (Moderate Evidence).

22 Nov 2021, Gel status: 0

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.

17 Nov 2021, Gel status: 0

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

21 Oct 2021, Gel status: 0

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