Gene Symbol:
ALAS2
HGNC:397
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.21
Filters:

Definitive classifications

X-linked erythropoietic protoporphyria
XL
03/27/2022
Evaluated
04/21/2024
Submitted

Strong classifications

X-linked erythropoietic protoporphyria
Submitted as: OMIM:300752
XL
10/15/2020
Evaluated
03/31/2021
Submitted
X-linked sideroblastic anemia 1
Submitted as: OMIM:300751
XL
10/15/2020
Evaluated
03/31/2021
Submitted
X-linked sideroblastic anemia 1
Submitted as: OMIM:300751
XL
03/16/2023
Evaluated
11/30/2023
Submitted
X-linked erythropoietic protoporphyria
Submitted as: OMIM:300752
XL
02/11/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

X-linked sideroblastic anemia 1
Submitted as: Orphanet:75563
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked erythropoietic protoporphyria
Submitted as: Orphanet:443197
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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