| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.124 | ATRIP | Zornitza Stark Marked gene: ATRIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.124 | ATRIP | Zornitza Stark Gene: atrip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.124 | ATRIP | Zornitza Stark Classified gene: ATRIP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.124 | ATRIP | Zornitza Stark Gene: atrip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.123 | ATRIP |
Zornitza Stark gene: ATRIP was added gene: ATRIP was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRIP were set to 40029331 Phenotypes for gene: ATRIP were set to Seckel syndrome, MONDO:0019342, ATRIP-related Review for gene: ATRIP was set to GREEN Added comment: PMID 40029331 reports 3 individuals from three families with biallelic ATRIP splice variants presenting with microcephalic primordial dwarfism and combined immunodeficiency. Affected individuals exhibit severe intrauterine growth restriction, post‑natal short stature, microcephaly and recurrent infections. Sources: Literature |
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