Genomics England

WDR73

WD repeat domain 73

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat syndrome 1, 251300
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat syndrome 1, 251300
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat Syndrome 1, 251300, Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat syndrome 1 #251300
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat syndrome, 251300