Activity
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| Hereditary ataxia with onset in adulthood v8.26 | FAT2 |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: FAT2. Tag Q2_25_ NHS_review was removed from gene: FAT2. |
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| Hereditary ataxia with onset in adulthood v8.25 | FAT2 | Achchuthan Shanmugasundram commented on gene: FAT2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.24 | FAT2 |
Arina Puzriakova Source NHS GMS was added to FAT2. Source Expert Review Green was added to FAT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v7.22 | FAT2 | Achchuthan Shanmugasundram Classified gene: FAT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.22 | FAT2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Jenna Ridley, there are four unrelated cases/ families identified with four different heterozygous missense variants in FAT2 gene and reported with late-onset spinocerebellar ataxia. There is some functional work available. This gene has been associated with relevant phenotype in OMIM (MIM #617769). This gene should therefore be promoted to green rating in the next GMS update. |
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| Hereditary ataxia with onset in adulthood v7.22 | FAT2 | Achchuthan Shanmugasundram Gene: fat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.21 | FAT2 | Achchuthan Shanmugasundram Publications for gene: FAT2 were set to 29053796; 36339299; 33884300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.20 | FAT2 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: FAT2. Tag Q2_25_ NHS_review tag was added to gene: FAT2. |
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| Hereditary ataxia with onset in adulthood v7.20 | FAT2 | Achchuthan Shanmugasundram reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053796, 33884300, 36339299; Phenotypes: Spinocerebellar ataxia 45, OMIM:617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.8 | FAT2 |
Jenna Ridley gene: FAT2 was added gene: FAT2 was added to Hereditary ataxia with onset in adulthood. Sources: Literature Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAT2 were set to 29053796; 36339299; 33884300 Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, OMIM:617769 Penetrance for gene: FAT2 were set to Complete Mode of pathogenicity for gene: FAT2 was set to Other Review for gene: FAT2 was set to GREEN Added comment: PMID: 29053796 reported a family (RF14) in which 6 patients spanning 2 generations had late-onset spinocerebellar ataxia after age 40. The proband was noted to have a relatively pure cerebellar syndrome with limb and gait ataxia, downbeat nystagmus, and dysarthria. No detailed clinical information was available for the remaining affected family members. Testing of 5 of the affected individuals was undertaken and c.10758G>C p.(Lys3586Asn) variant was identified in all. Two unaffected members were tested and did not harbour the variant. An unrelated patient (case DNA056251) had onset of slowly progressive gait and limb ataxia and dysarthria at around 50 years of age. He did not have nystagmus. Brain MRI showed atrophy of the cerebellar vermis and hemosiderin deposits in the mesencephalon. This individual harboured c.10946G>A p.(Ar3649Glu) PMID: 36339299 reported an 82yo male with a strong f/h of gait imbalance, horizontal gaze evoked nystagmus and ataxic dysarthria. A missense FAT2 variant p.(Met1705Thr) was identified. The variant also detected in his symptomatic surviving brother. PMID: 33884300 reported 2 siblings with late onset cerebellar ataxia and mild cerebellar atrophy, both with a FAT2 p.(Tyr3636Asp) variant Only missense variants have been reported. Sources: Literature |
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