Red cell disorders
Gene: ALAS2

ALAS2 (5'-aminolevulinate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The essential features of X-linked sideroblastic anemia include: (1) a hypochromic microcytic anaemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable haematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade.

Well established gene-disease association.
Created: 4 Sep 2021, 6:10 a.m. | Last Modified: 4 Sep 2021, 6:10 a.m.

Panel Version: 0.22

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Anaemia, sideroblastic, 1, MIM# 300751

Publications

Created: 13 Sep 2020, 8:36 a.m.
Last Modified: 13 Sep 2020, 8:36 a.m.
Panel version: 0.22

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
Wessex and West Midlands GLH
North West GLH
London South GLH
Victorian Clinical Genetics Services

Phenotypes

Anaemia, sideroblastic, 1, MIM# 300751

OMIM

301300

Clinvar variants

Variants in ALAS2

Penetrance

None

Publications

Panels with this gene