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This Panel is marked as Internal

Newborns main panel
Gene: ALAS2

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

X-linked sideroblastic anaemia due to ALAS? mutations in the Netherlands: a disease in disguise - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

GOF variants are associated with Protoporphyria, erythropoietic, XL, affecting hemizygous males and some het females (the phenotype in hete females ranges from asymptomatic to as severe as in affected males; reduced penetrance in females). LOF variants are associated with Anemia, sideroblastic, 1, XLR, affecting both hemizygous males and biallelic females. Both conditions included in newborns.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.

Panel Version: 0.41

Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

Details

Mode of Inheritance

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

Sources

Expert Review Amber

Phenotypes

Anemia, sideroblastic, 1

OMIM

Clinvar variants

Variants in ALAS2

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ALAS2. Added phenotypes Anemia, sideroblastic, 1 for gene: ALAS2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ALAS2. Added phenotypes Anemia, sideroblastic, 1 for gene: ALAS2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ALAS2. Added phenotypes Anemia, sideroblastic, 1 for gene: ALAS2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ALAS2. Added phenotypes Anemia, sideroblastic, 1 for gene: ALAS2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ALAS2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: ALAS2.

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: ALAS2.

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: ALAS2 was added gene: ALAS2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, 1