Gene Symbol:
ABCA4
HGNC:34
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p22.1
Filters:

ABCA4-related retinopathy classifications

ABCA4-related retinopathy
AR
10/06/2022
Evaluated
04/21/2024
Submitted

Cone-rod dystrophy classifications

cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Cone-rod dystrophy 3 classifications

cone-rod dystrophy 3
Submitted as: OMIM:604116
AR
01/08/2018
Evaluated
12/24/2020
Submitted
cone-rod dystrophy 3
Submitted as: OMIM:604116
AR
09/15/2022
Evaluated
11/30/2023
Submitted

Retinitis pigmentosa classifications

retinitis pigmentosa
Submitted as: Orphanet:791
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Retinitis pigmentosa 19 classifications

retinitis pigmentosa 19
Submitted as: OMIM:601718
AR
09/13/2022
Evaluated
11/30/2023
Submitted

Severe early-childhood-onset retinal dystrophy classifications

severe early-childhood-onset retinal dystrophy
Submitted as: OMIM:248200
AR
01/08/2018
Evaluated
12/24/2020
Submitted
severe early-childhood-onset retinal dystrophy
Submitted as: OMIM:248200
AR
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
severe early-childhood-onset retinal dystrophy
Submitted as: OMIM:248200
AR
06/12/2023
Evaluated
11/30/2023
Submitted

Stargardt disease classifications

Stargardt disease
Submitted as: Orphanet:827
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.