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  3. ALAS2
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Photosensitivity Syndromes

Gene: ALAS2

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25615817 - 6 unrelated families (9 patients) with protoporphyria a history of photosensitivity, females had a later onset. Protoporphyria is caused by GOF variants in the C-terminal. Females show variable severity in phenotype.
Sources: Expert list
Created: 22 Jul 2020, 1:15 a.m.

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

Phenotypes
Protoporphyria, erythropoietic, X-linked 300752

Publications

Mode of pathogenicity
Other

Created: 22 Jul 2020, 1:15 a.m.

Panel version: 0.2

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
  • Expert Review Green
  • Expert list
Phenotypes
  • Protoporphyria, erythropoietic, X-linked 300752
OMIM
301300
Clinvar variants
Variants in ALAS2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alas2 has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alas2 has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ALAS2 was added gene: ALAS2 was added to Photosensitivity Syndromes. Sources: Expert list 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) Publications for gene: ALAS2 were set to PMID: 25615817 Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked 300752 Mode of pathogenicity for gene: ALAS2 was set to Other Review for gene: ALAS2 was set to GREEN