Genomics England

PRMT7

protein arginine methyltransferase 7

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pseudohypoparathyroidism-like disorder
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 Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pseudohypoparathyroidism-like disorder
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 Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157, Pseudohypoparathyroidism-like disorder
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157