Gene Symbol:
SLC38A8
HGNC:32434
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16q23.3
Filters:

Definitive classifications

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Submitted as: OMIM:609218
AR
03/30/2023
Evaluated
08/19/2023
Submitted
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Submitted as: OMIM:609218
AR
06/19/2017
Evaluated
09/11/2023
Submitted
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
AR
02/10/2023
Evaluated
04/21/2024
Submitted

Strong classifications

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Submitted as: OMIM:609218
AR
09/29/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Submitted as: Orphanet:397618
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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