Gene Symbol:
SPTAN1
HGNC:11273
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.11
Filters:

Definitive classifications

undetermined early-onset epileptic encephalopathy
AD
01/17/2019
Evaluated
08/16/2021
Submitted
developmental and epileptic encephalopathy, 5
Submitted as: OMIM:613477
AD
05/28/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Strong classifications

developmental and epileptic encephalopathy, 5
Submitted as: OMIM:613477
AD
07/22/2015
Evaluated
11/25/2020
Submitted

Moderate classifications

developmental and epileptic encephalopathy, 5
Submitted as: OMIM:613477
AD
11/09/2017
Evaluated
09/28/2021
Submitted

Supportive classifications

AD
09/14/2021
Evaluated
09/14/2021
Submitted

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