Genomics England

iron-sulfur cluster assembly 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613