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Cytopenias and congenital anaemias

Gene: ALAS2

Green List (high evidence)

ALAS2 (5'-aminolevulinate synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 16 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence of causation and appropriate phenotype
Created: 28 Feb 2017, 1:11 p.m.
Missense mutations reported. Although some of the early families reported with the phenotype suggested that females may manifest anaemia, there is no supportive evidence of this in the reported cases with mutations. Therefore considered X-linked recessive inheritance.
Created: 20 Feb 2017, 9:40 a.m.

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

Phenotypes
Anemia, sideroblastic, 1 300751

Publications

Mode of pathogenicity
Other

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

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for ALAS2 were set to Anemia, sideroblastic, 1 300751

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for ALAS2 were set to 10029606

28 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for ALAS2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ALAS2 was created by LouiseD

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

ALAS2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing