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 7.27 Latest signed off version: v7.26 (12 Aug 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 10.23 Latest signed off version: v10.16 (12 Aug 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 7.80 Latest signed off version: v7.77 (12 Aug 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 6.3 Latest signed off version: v6.2 (12 Aug 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 6.18 Latest signed off version: v6.17 (12 Aug 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 8.1 Latest signed off version: v8.0 (12 Aug 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 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960