Hereditary neuropathy or pain disorder
Gene: DMXL2EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 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
Comment on phenotypes: Three brothers from a single family with Polyendocrine-polyneuropathy syndrome, OMIM:616113;polyendocrine-polyneuropathy syndrome MONDO:0014497, were homozygous for a DMXL2 variant (PMID: 25248098). Segregation between the variants and the condition was also reported in this study.Created: 4 Nov 2024, 2:57 p.m. | Last Modified: 4 Nov 2024, 2:57 p.m.
Panel Version: 6.61
At least five DMXL2 variants have been associated with Developmental and epileptic encephalopathy 81 (OMIM:618663) in four unrelated cases (PMID: 30237576;31688942). Segregation of the DMXL2 variants and the condition was apparent, in three families examined and supportive functional studies were also presented(PMID: 31688942).Created: 4 Nov 2024, 2:51 p.m. | Last Modified: 4 Nov 2024, 2:51 p.m.
Panel Version: 6.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Oct 2024, 10:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Developmental and epileptic encephalopathy 81, OMIM:618663
- developmental and epileptic encephalopathy, 81, MONDO:0032858
- OMIM
- 612186
- Clinvar variants
- Variants in DMXL2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Monogenic hearing loss
- Hereditary ataxia
- Early onset or syndromic epilepsy
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: DMXL2. Tag Q3_24_NHS_review was removed from gene: DMXL2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to DMXL2. Source Expert Review Green was added to DMXL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 to Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DMXL2 were set to 31688942
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: DMXL2. Tag Q3_24_NHS_review tag was added to gene: DMXL2.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DMXL2 were changed from developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dmxl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: DMXL2 was added gene: DMXL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMXL2 were set to 31688942 Phenotypes for gene: DMXL2 were set to developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features Penetrance for gene: DMXL2 were set to Complete Review for gene: DMXL2 was set to GREEN