Bilateral congenital or childhood onset cataracts

Gene: LONP1

Green List (high evidence)

Comment on mode of inheritance: There are >3 patients reported with biallelic variants and congenital cataracts. However, only one patient with monoallelic variant presented with cataracts. Hence, the MOI should remain as BIALLELIC.

Created: 14 Aug 2026, 2:26 p.m. | Last Modified: 14 Aug 2026, 2:26 p.m.

Panel Version: 8.9

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. Of seven patients with monoallelic variants, only one patient presented with bilateral congenital cataracts. Among nine patients with biallelic variants, four patients were reported with congenital cataracts.

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: 14 Aug 2026, 2:24 p.m. | Last Modified: 14 Aug 2026, 2:24 p.m.

Panel Version: 8.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879

Publications

• 40931319

Green List (high evidence)

Comment on list classification: Promoted from Red to Green based on previous review.

Created: 2 Oct 2019, 1:50 p.m. | Last Modified: 2 Oct 2019, 1:50 p.m.

Panel Version: 1.35

LONP1 is associated with CODAS syndrome on OMIM and probably associated with the same phenotype on Gene2Phenotype. It is a green gene on the ID panel (code 285, version 2.1017), Skeletal dysplasia (code 309, version 1.193) and Inborn errors of metabolism (code 467, version 1.262). There are >3 unrelated cases (PMID: 27878435; 25808063; 26622071; 28148925; 29408517; 25574826) of patients with either CODAS syndrome or just congenital cataracts who have different variants in this gene. Therefore, there is enough evidence to promote this to a green gene.

Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.

Panel Version: 1.32

Publications

• 27878435
• 25808063
• 26622071
• 28148925
• 29408517
• 25574826