Genomics England

kelch like family member 40

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nemaline myopathy 8, autosomal recessive, 615348
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nemaline myopathy 8, autosomal recessive, OMIM:615348
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE