DMXL2

Dmx like 2
OMIM: 612186, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber DMXL2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186
Red DMXL2 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Red DMXL2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
No list DMXL2 in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes ORPHA90636 OMIM:612186 Sensorineural Hearing Loss Tags curated_removed
Red DMXL2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH London North GLH NHS GMS South West GLH Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186
Green DMXL2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes ?Deafness, autosomal dominant 71, OMIM:617605
Green DMXL2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM 618663 Ohtahara syndrome
Green DMXL2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sensorineural Hearing Loss ORPHA90636 Epileptic encephalopathy, early infantile, 81, 618663 ?Polyendocrine-polyneuropathy syndrome, 616113
Red DMXL2 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Sensorineural Hearing Loss OMIM:612186 Polyendocrine-polyneuropathy syndrome, 616113 ORPHA90636
Green DMXL2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Developmental and epileptic encephalopathy 81, OMIM:618663 developmental and epileptic encephalopathy, 81, MONDO:0032858
Red DMXL2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH