| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Paediatric v1.0 | HIBCH | Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | HIBCH |
Zornitza Stark gene: HIBCH was added gene: HIBCH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to Neurodegeneration, progressive infantile |
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