Genomics England

IBA57

IBA57 homolog, iron-sulfur cluster assembly

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330, ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330, ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330, ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330