Gene Symbol:
PIGA
HGNC:8957
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.2
Filters:

Definitive classifications

multiple congenital anomalies-hypotonia-seizures syndrome 2
Submitted as: OMIM:300868
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
multiple congenital anomalies-hypotonia-seizures syndrome 2
Submitted as: OMIM:300868
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

multiple congenital anomalies-hypotonia-seizures syndrome 2
Submitted as: OMIM:300868
XL
09/24/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

multiple congenital anomalies-hypotonia-seizures syndrome 2
Submitted as: OMIM:300868
XL
03/12/2021
Evaluated
10/27/2022
Submitted

Supportive classifications

West syndrome
Submitted as: Orphanet:3451
AD
09/14/2021
Evaluated
09/14/2021
Submitted
malignant migrating partial seizures of infancy
Submitted as: Orphanet:293181
AD
09/14/2021
Evaluated
09/14/2021
Submitted
multiple congenital anomalies-hypotonia-seizures syndrome 2
Submitted as: Orphanet:300496
XL
09/14/2021
Evaluated
09/14/2021
Submitted
ferro-cerebro-cutaneous syndrome
Submitted as: Orphanet:397922
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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