Activity
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8 actions
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| Hereditary neuropathy or pain disorder v6.163 | FICD | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | FICD | Sarah Leigh Tag Q3_24_promote_green was removed from gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | FICD | Sarah Leigh reviewed gene: FICD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | FICD |
Sarah Leigh Source NHS GMS was added to FICD. Source Expert Review Green was added to FICD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.71 | FICD | Achchuthan Shanmugasundram Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.71 | FICD | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families with the same homozygous variant and functional studies) for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.71 | FICD | Achchuthan Shanmugasundram Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.70 | FICD |
Achchuthan Shanmugasundram gene: FICD was added gene: FICD was added to Hereditary neuropathy or pain disorder. Sources: Literature Q3_24_promote_green tags were added to gene: FICD. Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36136088 Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911 Review for gene: FICD was set to GREEN Added comment: PMID:36136088 reported three unrelated families with recurrent homozygous missense variant in FICD gene (p.Arg374His) and the patients presented with a a neurodegenerative disease of upper and lower motor neurons. A patient from one further family was identified with compound heterozygous variants in FICD gene (p.Arg374His and p.Gly370GlufsTer53). All these patients had onset of symptoms in childhood with progressive course. Their clinical manifestations included severe lower limb spasticity and mild upper limb spasticity. In addition, nerve conduction test showed motor neuropathy in the four patients with homozygous p.Arg374His variant, whereas this test was not done in the patient with compound heterozygous variants. Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP. This gene has been associated with relevant phenotypes in OMIM (MIM #620911). Sources: Literature |
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