Adult onset neurodegenerative disorder
Gene: ALAS2EnsemblGeneIds (GRCh38): ENSG00000158578
EnsemblGeneIds (GRCh37): ENSG00000158578
OMIM: 301300, Gene2Phenotype
ALAS2 is in 15 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Sideroblastic anaemia pehnotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
No evidence of association with diseaseCreated: 23 Apr 2019, 2:42 p.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)
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
-
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
- OMIM
- 301300
- Clinvar variants
- Variants in ALAS2
- Penetrance
- None
- Panels with this gene
-
- Cutaneous photosensitivity with a likely genetic cause
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Non-acute porphyrias
- Rare anaemia
- Likely inborn error of metabolism
- Erythropoietic protoporphyria, mild variant
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Iron metabolism disorders - NOT common HFE mutations
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ALAS2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ALAS2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ALAS2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: ALAS2 was added gene: ALAS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red 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)