Possible mitochondrial disorder - nuclear genes

Gene: LONP1

Green List (high evidence)

Comment on mode of inheritance: There is sufficient evidence available for the association of both monoallelic and biallelic variants in LONP1 with disease. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.

Created: 23 Jul 2026, 4:07 p.m. | Last Modified: 23 Jul 2026, 4:07 p.m.

Panel Version: 5.15

PMID:40931319 (2026) reported 16 individuals with 16 different variants in LONP1 gene, of which 11 individuals are new patients with neurodevelopmental features without congenital diaphragmatic hernia (CDH) or classic cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS features), and five are previously reported cases. Seven of these patients are identified with heterozygous variants, while the rest are identified with either homozygous or compound heterozygous variants.

Biallelic variants are associated with relevant phenotypes in OMIM (MIM #600373, last accessed 23 July 2026) and in Gene2Phenotype ('strong' rating on DD, Eye and Skeletal panels). Monoallelic variants are not yet associated with relevant phenotypes in OMIM.

Created: 23 Jul 2026, 4:04 p.m. | Last Modified: 23 Jul 2026, 4:04 p.m.

Panel Version: 5.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879; neurodevelopmental disorder, MONDO:0700092

Publications

• 40931319

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome, 600373

Comment on list classification: Mutations in the gene have been reported in more than 3 unrelated cases of CODAS syndrome in two independent publications, and functional studies support a role in the disease. It is a probable DD gene for CODAS syndrome.

Created: 15 Feb 2016, 3:11 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal