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| Hereditary Neuropathy - complex v1.4 | COQ7 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.3 | COQ7 | Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.142 | COQ7 | Zornitza Stark Publications for gene: COQ7 were set to PMID: 36454683 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.141 | COQ7 | Zornitza Stark Classified gene: COQ7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.141 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.140 | COQ7 | Chern Lim reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36758993, 36759155; Phenotypes: Distal hereditary motor neuropathy (MONDO#0018894), COQ7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.140 | COQ7 | Zornitza Stark Marked gene: COQ7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.140 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.140 | COQ7 | Elena Savva Classified gene: COQ7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.140 | COQ7 | Elena Savva Gene: coq7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.139 | COQ7 |
Elena Savva 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 Added comment: 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 |
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