Activity
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13 actions
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| Hereditary neuropathy or pain disorder v6.148 | FA2H |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: FA2H. Tag Q3_24_NHS_review was removed from gene: FA2H. |
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| Hereditary neuropathy or pain disorder v6.148 | FA2H | Sarah Leigh reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | FA2H |
Sarah Leigh Source Expert Review Green was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.100 | FA2H | Eleanor Williams Phenotypes for gene: FA2H were changed from SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, OMIM:612319; hereditary spastic paraplegia 35, MONDO:0012866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.99 | FA2H | Eleanor Williams Publications for gene: FA2H were set to 22146942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.98 | FA2H |
Eleanor Williams Tag Q3_24_promote_green tag was added to gene: FA2H. Tag Q3_24_NHS_review tag was added to gene: FA2H. |
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| Hereditary neuropathy or pain disorder v5.98 | FA2H | Eleanor Williams Classified gene: FA2H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.98 | FA2H | Eleanor Williams Added comment: Comment on list classification: Promoting with amber with a recommendation for green rating as there are now 4 cases with peripheral neuropathy and variants in this gene reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.98 | FA2H | Eleanor Williams Gene: fa2h has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.97 | FA2H | Eleanor Williams edited their review of gene: FA2H: Changed phenotypes to: Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.97 | FA2H | Eleanor Williams reviewed gene: FA2H: Rating: ; Mode of pathogenicity: None; Publications: 22146942, 31135052; Phenotypes: Spastic paraplegia 35, autosomal recessive, OMIM:612319; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | FA2H | Alexander Rossor edited their review of gene: FA2H: Added comment: peripheral neuropathy now reportedin 3 additional patients; Changed rating: GREEN; Changed publications to: 22146942:31135052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 22146942 Phenotypes for gene: FA2H were set to SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed; Spastic paraplegia 35, autosomal recessive, 612319 |
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