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  2. Monogenic Diabetes
  3. DMXL2
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Monogenic Diabetes

Gene: DMXL2

Red List (low evidence)
DMXL2 (Dmx like 2)
EnsemblGeneIds (GRCh38): ENSG00000104093
EnsemblGeneIds (GRCh37): ENSG00000104093
OMIM: 612186, Gene2Phenotype
DMXL2 is in 8 panels

1 review

Hali Van Niel (University of Melbourne)

Red List (low evidence)

4 unrelated individuals with DMXL2 variants and Developmental and epileptic encephalopathy 81phenotype (30237576; 31688942)
1 family with dominant DMXL2 variant and non syndromic hearing loss (27657680)

Only one study implicated DMXL2 with diabetes mellitus as part of syndrome (PMID 25248098) 3 brothers with homozygous DMXL2 mutation and manifestation of diabetes mellitus

Unclear if diabetes mellitus is involved in phenotype for DMXL2
Created: 2 May 2024, 5:35 a.m. | Last Modified: 2 May 2024, 5:35 a.m.
Panel Version: 0.74

Mode of inheritance
Unknown

Publications

Created: 2 May 2024, 5:35 a.m.
Last Modified: 2 May 2024, 5:35 a.m.
Panel version: 0.74

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Polyendocrine-polyneuropathy syndrome , MIM# 616113
OMIM
612186
Clinvar variants
Variants in DMXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmxl2 has been classified as Red List (Low Evidence).

4 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; OMIM:612186; ORPHA90636 to Polyendocrine-polyneuropathy syndrome , MIM# 616113

4 May 2024, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098

4 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmxl2 has been classified as Red List (Low Evidence).

17 Jan 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DMXL2 was added gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other 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 Sensorineural Hearing Loss; OMIM:612186; ORPHA90636