Hereditary Neuropathy - complex

Gene: COQ7

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:36758993:
- Two unrelated patients with distal hereditary motor neuropathy (dHMN), with compound heterozygous variants (canonical splice site variant and missense variants).
- cDNA study showed the splice variant resulted in exon skipping, no functional studies for the three missense.

PMID:36759155 is a commentary abt PMID:36758993:
- Those two patients presented with the same phenotype of distal motor neuropathy 6 (dHMN) that was previously described in PMID:36454683. One of the patients presented with pyramidal signs, similarly to two of the three patients reported in PMID: 36454683.
Created: 2 Mar 2023, 3:32 a.m. | Last Modified: 2 Mar 2023, 3:32 a.m.
Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal hereditary motor neuropathy (MONDO#0018894), COQ7-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 36454683 - 1 family (3 sibs) with a homozygous start-loss. Functional studies showed 85% loss of protein of the main isoform 1 (NM_016138) in patient fibroblasts and accumulation of protein substrate. Patients had a motor neuropathy
Sources: Literature
Created: 5 Jan 2023, 3:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
OMIM
601683
Clinvar variants
Variants in COQ7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ7 were changed from Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) to Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402

2 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ7 were set to PMID: 36454683

2 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq7 has been classified as Green List (High Evidence).

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq7 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: coq7 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: COQ7 was added gene: COQ7 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 36454683 Phenotypes for gene: COQ7 were set to Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) Review for gene: COQ7 was set to AMBER