Neurodegenerative disorders, adult onset
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
-
- Rare anaemia
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Hereditary ataxia, adult onset
- Erythropoietic protoporphyria, mild variant
- Non-acute porphyrias
- Iron metabolism disorders - NOT common HFE mutations
- Cutaneous photosensitivity with a likely genetic cause
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial disorders
- Vascular skin disorders
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)