Anaemias and red cell disorders
Gene: ALAS2

ALAS2 (5'-aminolevulinate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Microcytic anemia; Enzyme Disorder; Sideroblastic anemia

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Eligibility statement prior genetic testing
UKGTN
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752
Sideroblastic Anemia and Ataxia
Sideroblastic anaemia
ANEMIA, HEREDITARYSIDEROBLASTIC X-linked

OMIM

301300

Clinvar variants

Variants in ALAS2

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ALAS2 was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

22 Jul 2016, Gel status: 0

Created