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

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

Retinitis pigmentosa classifications

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

Stargardt disease classifications

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

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