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Intellectual disability

Gene: SPRTN

Red List (low evidence)

SPRTN (SprT-like N-terminal domain)
EnsemblGeneIds (GRCh38): ENSG00000010072
EnsemblGeneIds (GRCh37): ENSG00000010072
OMIM: 616086, Gene2Phenotype
SPRTN is in 2 panels

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Details

Sources
OMIM
616086
Clinvar variants
Variants in SPRTN
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SPRTN was added gene: SPRTN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: SPRTN was set to