| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.96 | DNAJC3 | Chirag Patel Marked gene: DNAJC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.96 | DNAJC3 | Chirag Patel Gene: dnajc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.96 | DNAJC3 | Chirag Patel Classified gene: DNAJC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.96 | DNAJC3 | Chirag Patel Gene: dnajc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.95 | DNAJC3 |
Chirag Patel gene: DNAJC3 was added gene: DNAJC3 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 34654017; 34630333; 33486469; 32738013; 28940199 Phenotypes for gene: DNAJC3 were set to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 Review for gene: DNAJC3 was set to GREEN Added comment: 14 individuals from 8 unrelated families with biallelic variants in DNAJC3, presenting with congenital/early‑onset hypothyroidism, early‑onset diabetes mellitus, neuropathy, cerebellar ataxia, progressive neurodegeneration, short stature, and sensorineural hearing loss. Sources: Literature |
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