Monogenic diabetes
Gene: DMXL2
DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 11 panels
1 review
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- Phenotypes
-
- ORPHA90636
- OMIM:612186
- Sensorineural Hearing Loss
- Tags
- OMIM
- 612186
- Clinvar variants
- Variants in DMXL2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- 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 diabetes
- Monogenic hearing loss
- Hereditary ataxia
- Early onset or syndromic epilepsy
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: DMXL2.
30 Jan 2019, Gel status: 0
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
25 Jan 2019, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to DMXL2. Rating Changed from Amber List (moderate evidence) to No List (delete)
18 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DMXL2 was added gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098 Phenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss