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| Motor Neurone Disease v2.20 | RFC1 | Bryony Thompson Marked gene: RFC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.20 | RFC1 | Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.20 | RFC1 | Bryony Thompson Classified gene: RFC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.20 | RFC1 | Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.19 | RFC1_CANVAS_ANNGN | Bryony Thompson Marked STR: RFC1_CANVAS_ANNGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.19 | RFC1_CANVAS_ANNGN | Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.19 | RFC1_CANVAS_ANNGN | Bryony Thompson Publications for STR: RFC1_CANVAS_ANNGN were set to 30926972; 32851396; 33237689; 31230722; 33237689; 32694621; 33103729; 35355059 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.18 | RFC1 |
Bryony Thompson gene: RFC1 was added gene: RFC1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC1 were set to 38916676; 38324175 Phenotypes for gene: RFC1 were set to cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720 Review for gene: RFC1 was set to GREEN Added comment: Only biallelic repeat expansions have been reported in the MND cases, but including as a gene because loss-of-function SNVs/indels have been reported as second hits with the repeat expansion. PMID 38916676 reports three individuals from three families and PMID 38324175 reports three siblings from one family, all with biallelic RFC1 repeat expansions (AAGGG or ACAGG) presenting with adult‑onset motor neuron disease (ALS/PLS or motor neuronopathy) often accompanied by sensory neuropathy, cerebellar ataxia or vestibular deficits. Sources: Literature |
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| Motor Neurone Disease v2.17 | RFC1_CANVAS_ANNGN | Bryony Thompson edited their review of STR: RFC1_CANVAS_ANNGN: Added comment: PMID 38916676 reports three individuals from three families and PMID 38324175 reports three siblings from one family, all with biallelic RFC1 repeat expansions (AAGGG or ACAGG) presenting with adult‑onset motor neuron disease (ALS/PLS or motor neuronopathy) often accompanied by sensory neuropathy, cerebellar ataxia or vestibular deficits.; Changed publications: 30926972, 32851396, 33237689, 31230722, 33237689, 32694621, 33103729, 35355059, 38916676, 38324175; Changed phenotypes: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.17 | Bryony Thompson Copied STR RFC1_CANVAS_ANNGN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.17 | RFC1_CANVAS_ANNGN |
Bryony Thompson STR: RFC1_CANVAS_ANNGN was added STR: RFC1_CANVAS_ANNGN was added to Motor Neurone Disease. Sources: Expert Review Green,Expert list adult-onset tags were added to STR: RFC1_CANVAS_ANNGN. Mode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: RFC1_CANVAS_ANNGN were set to 30926972; 32851396; 33237689; 31230722; 33237689; 32694621; 33103729; 35355059 Phenotypes for STR: RFC1_CANVAS_ANNGN were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 |
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