Mosaic skin disorders - deep sequencing

Gene: COX7B

No list

COX7B (cytochrome c oxidase subunit 7B)
EnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Expression mosaicism, rather than genomic mosaicism, therefore not appropriate for panel. Important to ensure testing available for these conditions via an alterative pathway.
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16

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
Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: COX7B; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

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 Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Tags
curated_removed
OMIM
300885
Clinvar variants
Variants in COX7B
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: COX7B.

5 Dec 2019, Gel status: 0

Added New Source, Set mode of inheritance, Status Update

Catherine Snow (Genomics England)

Source Expert Review Removed was added to COX7B. Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Green List (high evidence) to No List (delete)

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to COX7B.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: COX7B was added gene: COX7B was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COX7B were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)