DIAPH1

diaphanous related formin 1
OMIM: 602121, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green DIAPH1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Red DIAPH1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Seizures, cortical blindness, and microcephaly syndrome, MIM#616632
Green DIAPH1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness thrombocytopenia 124900 Seizures cortical blindness microcephaly 616632
Green DIAPH1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Seizures, cortical blindness, microcephaly syndrome 616632
Green DIAPH1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
Green DIAPH1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Green DIAPH1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Combined Immune deficiency
Green DIAPH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green DIAPH1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia 124900
Green DIAPH1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Green DIAPH1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM#616632
Green DIAPH1 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Phenotypes Macrothrombocytopenia and sensorineural hearing loss
Red DIAPH1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
Green DIAPH1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900