DDX41

DEAD-box helicase 41
OMIM: 608170, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green DDX41 in Haematological malignancies Level 2: Cancer susceptibility Version 0.148	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Expert Review Green Expert list Phenotypes DDX41-related AML SCN3 CML AML, MDS (late onset), possibly others No other known cancer risks Class: familial predisp to leukaemia (typ AD)
Green DDX41 in Bone Marrow Failure Level 2: Haematological disorders Version 2.9 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Green DDX41 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green DDX41 in Incidentalome Version 1.30	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 Tags cancer
Green DDX41 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Red DDX41 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bone dysplasia, ichthyosis, and dysmorphism
Green DDX41 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.157 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green DDX41 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.2 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green DDX41 in IBMDx study Version 1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green IBMDx Study Expert list Phenotypes {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871