Hereditary Neuropathy - complex
Gene: COQ7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
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
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: LiteratureCreated: 5 Jan 2023, 3:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894)
Publications
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
Publications for gene: COQ7 were set to PMID: 36454683
Gene: coq7 has been classified as Green List (High Evidence).
Gene: coq7 has been classified as Amber List (Moderate Evidence).
Gene: coq7 has been classified as Amber List (Moderate Evidence).
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