| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.38 | SUCLA2 | Zornitza Stark Marked gene: SUCLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.38 | SUCLA2 | Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.38 | SUCLA2 | Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.38 | SUCLA2 | Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.37 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 15877282; 17287286; 17301081; 23759946; 33231368; 33230181; 28243576; 27913098; 27651038 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Review for gene: SUCLA2 was set to GREEN Added comment: Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported. Sources: Expert Review |
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