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| Hereditary neuropathy or pain disorder v3.60 | TECPR2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TECPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.58 | TECPR2 | Sarah Leigh reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.57 | TECPR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2. Source NHS GMS was added to TECPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v2.10 | TECPR2 | Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: TECPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.10 | TECPR2 | Mafalda Gomes Phenotypes for gene: TECPR2 were changed from Hereditary sensory and autonomic neuropathy to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.9 | TECPR2 | Mafalda Gomes changed review comment from: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss?of?function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.; to: Neuser et al. (2021) report 17 unrelated cases with a biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss of function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.9 | TECPR2 | Mafalda Gomes reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33847017; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.8 | TECPR2 |
Mafalda Gomes Source Expert Review Amber was added to TECPR2. Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Hereditary neuropathy or pain disorder v1.64 | TECPR2 |
Dmitrijs Rots gene: TECPR2 was added gene: TECPR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to PubMed: 33847017 Phenotypes for gene: TECPR2 were set to Hereditary sensory and autonomic neuropathy Penetrance for gene: TECPR2 were set to unknown Review for gene: TECPR2 was set to GREEN Added comment: Neuser et al. (2021) reported clinical findings in 17 patients, including 2 sib pairs, from 15 families segregating HSAN9. Sources: Literature |
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