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| Cerebellar and Pontocerebellar Hypoplasia v0.59 | SNX14 | Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.59 | SNX14 | Zornitza Stark Marked gene: SNX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.59 | SNX14 | Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.59 | SNX14 | Zornitza Stark Classified gene: SNX14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.59 | SNX14 | Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.53 | SNX14 |
Crystle Lee gene: SNX14 was added gene: SNX14 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX14 were set to 25439728; 24501761; 25848753 Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Review for gene: SNX14 was set to AMBER Added comment: Not sure if cerebellar hypoplasia or atrophy. Appears to be mostly atrophy but early onset. Green in PanelApp UK: "Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported" 2016 Thomas 2014: 7 affected individuals from 3 unrelated consanguineous families. Appears to be predominantly cerebellar atrophy, 4 of which were progressive. Sousa 2014: Reported cerebellar hypotrophy in 2 sisters (>15 years old). Noted as cerebellar hypoplasia in OMIM. Akizu 2015: 12 families with cerebellar atrophy. Childhood-onset recessive cerebellar atrophy with ataxia (supp data indicates all <5 years old) Sources: Expert Review |
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