Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | NFASC |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: NFASC. Tag Q3_24_NHS_review was removed from gene: NFASC. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | NFASC | Sarah Leigh reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | NFASC |
Sarah Leigh Source NHS GMS was added to NFASC. Source Expert Review Green was added to NFASC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.55 | NFASC | Achchuthan Shanmugasundram Classified gene: NFASC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.55 | NFASC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases with syndromic neuropathy. Hence, this gene can be recommended for promotion to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.55 | NFASC | Achchuthan Shanmugasundram Gene: nfasc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.54 | NFASC | Achchuthan Shanmugasundram Phenotypes for gene: NFASC were changed from Developmental delay; peripheral neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.53 | NFASC | Achchuthan Shanmugasundram Publications for gene: NFASC were set to 30850329: 30124836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.52 | NFASC |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFASC. Tag Q3_24_NHS_review tag was added to gene: NFASC. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.52 | NFASC |
Achchuthan Shanmugasundram commented on gene: NFASC: PMID:30850329 reported the identification of a homozygous NFASC variant (p.Val1122Glu) in two siblings from an Italian family. The patients presented with early-onset cerebellar ataxia and demyelinating neuropathy. PMID:31501903 reported the identification of one frameshift and four different homozygous non-synonymous variants in NFASC gene in ten individuals from six unrelated families. They presented with a neurodevelopmental disorder characterised with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement. Neuropathy was reported in at least three patients from two different families. This gene has been associated with relevant phenotype in OMIM (MIM #618356), which lists demyelinating sensorimotor polyneuropathy as one of the clinical manifestations observed in some of the patients. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.37 | NFASC | Achchuthan Shanmugasundram reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30850329, 31501903; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | NFASC |
Alexander Rossor gene: NFASC was added gene: NFASC was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 30850329: 30124836 Phenotypes for gene: NFASC were set to Developmental delay; peripheral neuropathy Penetrance for gene: NFASC were set to Complete Review for gene: NFASC was set to GREEN Added comment: Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||