Structural eye disease
Gene: COX7BEnsemblGeneIds (GRCh38): ENSG00000131174
EnsemblGeneIds (GRCh37): ENSG00000131174
OMIM: 300885, Gene2Phenotype
COX7B is in 14 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI changed from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" as the latter is the correct MOI.Created: 22 Nov 2021, 11:31 a.m. | Last Modified: 22 Nov 2021, 11:31 a.m.
Panel Version: 1.92
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Indrieri reported three families with COX7B variants, but only one individual had an eye anomaly (pale optic discs) - despite this COX7B was classed as microphthalmia with linear skin defects as same spectrum of anomalies as with HCCS variants.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2
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
-
- NHS GMS
- Expert Review Amber
- London North GLH
- Phenotypes
-
- Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
- OMIM
- 300885
- Clinvar variants
- Variants in COX7B
- Penetrance
- None
- 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
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: COX7B was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to COX7B. Publications for gene COX7B were changed from to 23122588
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to COX7B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COX7B was added gene: COX7B was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887