Paediatric motor neuronopathies
Gene: ASAH1EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
2 reviews
Pinki Munot (Consultant )
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive myoclonic epilepsy, regression and Motor neuronopathy
Alice Gardham (Genomics England)
Mutations identified in at least four families. Recognised on G2PCreated: 26 Jan 2017, 11:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy 159950
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
- OMIM
- 613468
- Clinvar variants
- Variants in ASAH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- DDG2P
- Familial pulmonary fibrosis
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Set publications
Alice Gardham (Genomics England)Publications for ASAH1 were set to 22703880
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for ASAH1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Antonio Rueda (GEL)ASAH1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen