Paediatric motor neuronopathies

Gene: ASAH1

Green List (high evidence)

ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 13 panels

2 reviews

Pinki Munot (Consultant )

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive myoclonic epilepsy, regression and Motor neuronopathy

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in at least four families. Recognised on G2P
Created: 26 Jan 2017, 11:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy 159950

Publications

History Filter Activity

18 Mar 2021, Gel status: 3

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

7 Mar 2017, Gel status: 4

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

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950

26 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for ASAH1 were set to 22703880

26 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for ASAH1 was changed to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

ASAH1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen