Vascular skin disorders

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

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Skin photosensitivity rather than vascular malformations.
Created: 2 Jul 2020, 12:30 a.m. | Last Modified: 2 Jul 2020, 12:30 a.m.
Panel Version: 1.3

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that ALAS2 should be added to this panel
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.20

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to ALAS2. Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2 Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: ALAS2 was added gene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752