ISCA2

iron-sulfur cluster assembly 2
OMIM: 615317, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ISCA2 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 Tags founder-effect
Green ISCA2 in Pyruvate dehydrogenase (PDH) deficiency Version 1.36 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
Green ISCA2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags founder-effect
Red ISCA2 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370
Green ISCA2 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 optic atrophy, MONDO:0003608
Green ISCA2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370
Green ISCA2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370
Green ISCA2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Amber ISCA2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags founder-effect
Green ISCA2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert list Phenotypes infantile neurodegenerative mitochondrial disorder Tags founder-effect
Green ISCA2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370