CIAO1

cytosolic iron-sulfur assembly component 1
OMIM: 604333, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CIAO1 in Congenital muscular dystrophy Level 2: Neurology Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Amber CIAO1 in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Green CIAO1 in Congenital myopathy Level 2: Neurology Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Amber CIAO1 in Congenital myaesthenic syndrome Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags to_be_confirmed_NHSE
Green CIAO1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Red CIAO1 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes CIAO1-related neuromuscular disorder with intellectual disability MONDO:0975806
Green CIAO1 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960