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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ATG7 | Eleanor Williams Tag Q3_22_rating was removed from gene: ATG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | ATG7 | Eleanor Williams reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | ATG7 |
Eleanor Williams Source Expert Review Green was added to ATG7. Source NHS GMS was added to ATG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.298 | ATG7 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.298 | ATG7 | Arina Puzriakova Classified gene: ATG7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.298 | ATG7 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark and based on the evidence provided this gene should be promoted to Green at the next GMS panel update. ATG7 is associated with a relevant phenotype in OMIM (MIM# 34161705) and has a 'strong' disease confidence classification for this phenotype in G2P. Collier et al. 2021 (PMID: 34161705) identified 5 unrelated families with distinct ATG7 variants and a neurodevelopmental disorder which mainly comprised cerebellar ataxia (11/11), mild-to-severe ID (12/12), optic atrophy (7/11), among other features. |
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| Ataxia and cerebellar anomalies - narrow panel v2.298 | ATG7 | Arina Puzriakova Gene: atg7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.297 | ATG7 | Arina Puzriakova Phenotypes for gene: ATG7 were changed from Spinocerebellar ataxia, SCAR31, MIM#619422 to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.226 | ATG7 |
Zornitza Stark gene: ATG7 was added gene: ATG7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 34161705 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422 Review for gene: ATG7 was set to GREEN Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. Sources: Literature |
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