Hereditary neuropathy or pain disorder
Gene: COQ7
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
This gene is associated with autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9)
Sources: NHS GMSCreated: 22 Jan 2024, 3:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9)
Publications
Gene: coq7 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COQ7 were changed from autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) to Neuronopathy, distal hereditary motor, autosomal recessive 9, OMIM:620402
Publications for gene: COQ7 were set to PMID: 36758993; 37077559
Tag Q1_24_promote_green tag was added to gene: COQ7. Tag Q1_24_NHS_review tag was added to gene: COQ7.
gene: COQ7 was added gene: COQ7 was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 36758993; 37077559 Phenotypes for gene: COQ7 were set to autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) Review for gene: COQ7 was set to GREEN