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 1.62	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635
Red DIAPH1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 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 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Green DIAPH1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Green DIAPH1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Green DIAPH1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635
Green DIAPH1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 Combined Immune deficiency
Green DIAPH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Green DIAPH1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635
Green DIAPH1 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 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 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Green DIAPH1 in IBMDx study Version 0.38	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Phenotypes DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635
Red DIAPH1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Green DIAPH1 in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900