Genomics England

translocase of outer mitochondrial membrane 7

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601, Garg-Mishra progeroid syndrome, MONDO:0957953
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601, Garg-Mishra progeroid syndrome, MONDO:0957953
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601, Garg-Mishra progeroid syndrome, MONDO:0957953
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601, Garg-Mishra progeroid syndrome, MONDO:0957953
Green in Structural eye disease R-numbers: R36 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601