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Autism

Gene: APH1A

Red List (low evidence)

APH1A (aph-1 homolog A, gamma-secretase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117362
EnsemblGeneIds (GRCh37): ENSG00000117362
OMIM: 607629, Gene2Phenotype
APH1A is in 1 panel

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/APH1A
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
OMIM
607629
Clinvar variants
Variants in APH1A
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 APH1A.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: APH1A was added gene: APH1A was added to Autism. Sources: SFARI Mode of inheritance for gene: APH1A was set to