Gene Symbol:
ATP6AP2
HGNC:18305
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.4
Filters:

Definitive classifications

ATP6AP2-related disorder
XL
09/14/2020
Evaluated
04/21/2024
Submitted

Strong classifications

congenital disorder of glycosylation, type IIr
Submitted as: OMIM:301045
AR
12/22/2020
Evaluated
12/24/2020
Submitted
congenital disorder of glycosylation, type IIr
Submitted as: OMIM:301045
XL
04/16/2021
Evaluated
11/30/2023
Submitted
syndromic X-linked intellectual disability Hedera type
Submitted as: OMIM:300423
XL
04/24/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

X-linked parkinsonism-spasticity syndrome
Submitted as: OMIM:300911
XL
01/28/2021
Evaluated
03/31/2021
Submitted
syndromic X-linked intellectual disability Hedera type
Submitted as: OMIM:300423
XL
01/28/2021
Evaluated
03/31/2021
Submitted
syndromic X-linked intellectual disability Hedera type
Submitted as: OMIM:300423
XL
07/02/2020
Evaluated
03/02/2021
Submitted

Supportive classifications

syndromic X-linked intellectual disability Hedera type
Submitted as: Orphanet:93952
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked parkinsonism-spasticity syndrome
Submitted as: Orphanet:363654
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

syndromic X-linked intellectual disability Hedera type
Submitted as: OMIM:300423
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
X-linked parkinsonism-spasticity syndrome
Submitted as: OMIM:300911
XL
03/27/2018
Evaluated
03/02/2021
Submitted
syndromic X-linked intellectual disability Hedera type
Submitted as: OMIM:300423
XL
07/22/2015
Evaluated
09/11/2023
Submitted
X-linked parkinsonism-spasticity syndrome
Submitted as: OMIM:300911
Unknown
04/16/2021
Evaluated
11/30/2023
Submitted

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