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Intellectual disability

Gene: ASPH

Red List (low evidence)

ASPH (aspartate beta-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000198363
EnsemblGeneIds (GRCh37): ENSG00000198363
OMIM: 600582, Gene2Phenotype
ASPH is in 3 panels

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Details

Sources
OMIM
600582
Clinvar variants
Variants in ASPH
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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