Neonatal cholestasisGene: SCP2
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. However, the phenotype associated with this gene does not appear to have any involvement with liver disease.
Created: 15 Aug 2018, 2:31 p.m.
Comment on phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy 613724
Created: 15 Aug 2018, 2:27 p.m.
This panel has been subjected to extensive internal and external review.
Gene: scp2 has been classified as Red List (Low Evidence).
Phenotypes for gene: SCP2 were set to ?Leukoencephalopathy with dystonia and motor neuropathy 613724
Mode of inheritance for gene: SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
SCP2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SCP2 was created by Ellen McDonagh