Genomics England

DIAPH1

diaphanous related formin 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes (NO OMIM NUMBER), 124900 Macrothrombocytopenia and hearing loss, Macrothrombocytopenia and hearing loss
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seizures, cortical blindness, microcephaly syndrome, 616632
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seizures, cortical blindness, microcephaly syndrome, 616632, developmental delay, intellectual disability
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.42	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Nonsyndromic Hearing Loss, Mixed, Deafness, autosomal dominant 1, 124900, hearing loss
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seizures, cortical blindness, microcephaly syndrome, OMIM:616632
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes microcephaly, blindness and early onset seizures, severe visual impairment, intellectual disability, and short stature, Seizures, cortical blindness, microcephaly syndrome, 616632