DMXL2

Dmx like 2
OMIM: 612186, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber DMXL2 in ClinGen Gene Validity Curations Version 0.65	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Amber Other Phenotypes Sensorineural Hearing Loss ORPHA90636 OMIM:612186
Amber DMXL2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	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 Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) 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 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Polyendocrine-polyneuropathy syndrome, OMIM:616113
Red DMXL2 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
No list DMXL2 in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	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 Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.39 Latest signed off version: v4.0 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) 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 Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	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
Red DMXL2 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH