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Intellectual disability

Gene: SPTLC1

Red List (low evidence)

SPTLC1 (serine palmitoyltransferase long chain base subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000090054
EnsemblGeneIds (GRCh37): ENSG00000090054
OMIM: 605712, Gene2Phenotype
SPTLC1 is in 10 panels

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History Filter Activity

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SPTLC1 was added gene: SPTLC1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: SPTLC1 was set to