Hereditary neuropathy or pain disorder
Gene: ASAH1EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ASAH1 variants have been associated with Spinal muscular atrophy with progressive myoclonic epilepsy (OMIM:159950) and as definitive G2P gene for the same condition. At least four variants have been reported in at least three unrelated cases.Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045; Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Publications
- 534421
- 22703880
Alexander Rossor (UCL Institute of Neurology)
multiple affected individuals with peripheral neuropathy
Sources: Expert listCreated: 15 Oct 2024, 10:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy; motor neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045
- Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
- OMIM
- 613468
- Clinvar variants
- Variants in ASAH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal hydrops
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Paediatric motor neuronopathies
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ASAH1. Tag Q3_24_NHS_review was removed from gene: ASAH1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ASAH1. Source Expert Review Green was added to ASAH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ASAH1 were changed from Progressive myoclonic epilepsy; motor neuropathy to spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045; Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: asah1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ASAH1. Tag Q3_24_NHS_review tag was added to gene: ASAH1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ASAH1 was added gene: ASAH1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 24164096: 12571787: 534421: 22703880 Phenotypes for gene: ASAH1 were set to Progressive myoclonic epilepsy; motor neuropathy Penetrance for gene: ASAH1 were set to Complete Review for gene: ASAH1 was set to GREEN