LONP1

lon peptidase 1, mitochondrial
OMIM: 605490, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green LONP1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.13 Latest signed off version: v8.5 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879
Green LONP1 in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.44 Latest signed off version: v1.41 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 neurodevelopmental disorder, MONDO:0700092
Green LONP1 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.5 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879
Green LONP1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Green LONP1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 neurodevelopmental disorder, MONDO:0700092 Tags Q3_26_MOI
Green LONP1 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 neurodevelopmental disorder, MONDO:0700092 Tags Q3_26_MOI
Green LONP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 Tags watchlist_moi
Green LONP1 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 Expert Review Green DD-Gene2Phenotype Phenotypes CODAS SYNDROME 600373
Green LONP1 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 Expert Review Green Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 neurodevelopmental disorder, MONDO:0700092 Tags Q3_26_MOI
Green LONP1 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert list Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879 neurodevelopmental disorder, MONDO:0700092 Tags Q3_26_MOI
Red LONP1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH