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Autism

Gene: EPPK1

Red List (low evidence)

EPPK1 (epiplakin 1)
EnsemblGeneIds (GRCh38): ENSG00000261150
EnsemblGeneIds (GRCh37): ENSG00000227184
OMIM: 607553, Gene2Phenotype
EPPK1 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/EPPK1
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
OMIM
607553
Clinvar variants
Variants in EPPK1
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to EPPK1.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: EPPK1 was added gene: EPPK1 was added to Autism. Sources: SFARI Mode of inheritance for gene: EPPK1 was set to