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| Ataxia - adult onset v0.130 | CAPN1 | Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, 616907 to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.129 | CAPN1 | Zornitza Stark edited their review of gene: CAPN1: Changed phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907, MONDO:0014827 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.8 | CAPN1 | Bryony Thompson Marked gene: CAPN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.8 | CAPN1 | Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.8 | CAPN1 | Bryony Thompson Classified gene: CAPN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.8 | CAPN1 | Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.7 | CAPN1 |
Bryony Thompson gene: CAPN1 was added gene: CAPN1 was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286 Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907 Review for gene: CAPN1 was set to GREEN Added comment: Homozygous or compound heterozygotes reported in 4 independent families with cerebellar ataxia and knockout mouse exhibit ataxia (PMID: 27320912). Multiple reports of homozygous cases with hereditary spastic paraparesis and spastic ataxia (PMID: 29678961, 30572172, 31023339, 31104286). Onset in young adulthood. Sources: Expert list |
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