Hereditary neuropathy or pain disorder
Gene: COQ7

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 1:11 p.m. | Last Modified: 26 Sep 2024, 1:11 p.m.

Panel Version: 5.16

Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS review.
Created: 24 Jan 2024, 2:23 p.m. | Last Modified: 24 Jan 2024, 2:23 p.m.

Panel Version: 3.79

PMID:36454683 reported three siblings of Portuguese decent with distal hereditary motor neuropathy and identified with a homozygous COQ7 variant that disrupted the start codon of the main COQ7 isoform 1 (c.3G-T).

PMID:36758993 reported two unrelated males of Chinese decent, who developed slowly progressive distal muscle weakness and atrophy at 14 to 15 years of age. They were identified with compound heterozygous variants in COQ7 gene (family 1: c.253-2A-T/ p.Leu156Gln & c.467T-A/ p.Leu156Gln; family 2: c.160C-T/ p.Arg54Trp & c.467T-G/ p.Leu156Arg).

PMID:37077559 reported three siblings of Syrian decent who presented with progressive distal limb muscle weakness and atrophy due to a length-dependent peripheral motor neuropathy. They were identified with a homozygous COQ7 variant (c.1A-G).

This gene has been associated with relevant phenotype in OMIM (MIM #620402), but not in Gene2Phenotype.
Created: 24 Jan 2024, 2:18 p.m. | Last Modified: 24 Jan 2024, 2:18 p.m.

Panel Version: 3.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402

Publications

Created: 24 Jan 2024, 2:18 p.m.
Last Modified: 24 Jan 2024, 2:18 p.m.
Panel version: 5.16

Lucy Jackson (NHS)

Green List (high evidence)

This gene is associated with autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9)
Sources: NHS GMS
Created: 22 Jan 2024, 3:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9)

Publications

Created: 22 Jan 2024, 3:33 p.m.

Panel version: 3.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402

OMIM

601683

Clinvar variants

Variants in COQ7

Penetrance

None

Publications

Panels with this gene