Genomics England

WDR37

WD repeat domain 37

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100
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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Abnormality of nervous system morphology, Hearing abnormality, Abnormality of the cardiovascular system, Abnormality of the skeletal system, Abnormality of the genitourinary system, Neurooculocardiogenitourinary syndrome, OMIM:618652
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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Abnormality of nervous system morphology, Hearing abnormality, Abnormality of the cardiovascular system, Abnormality of the skeletal system, Abnormality of the genitourinary system, Neurooculocardiogenitourinary syndrome, OMIM:618652
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurooculocardiogenitourinary syndrome, OMIM:618652
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes corneal opacity, Peters anomaly, coloboma, microcornea, Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850